61 research outputs found
Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing
- Author
- A Ankala
- A Dajnoki
- A McKenna
- A Schuller
- AL Montalvo
- AM Bolger
- AM Sulonen
- Amelie Nadeau
- AR Kemper
- AR Quinlan
- BK Burton
- Bruno Maranda
- C Regnery
- C Wallgren-Pettersson
- C-F Yang
- Christiane Auray-Blais
- CR Scott
- D Blankenberg
- DR Sumita
- E Gutiérrez-Rivas
- E Samorodnitsky
- Elaine Gravel
- EM Hoogerwaard
- F Martiniuk
- GA Auwera Van der
- H Lee
- H Li
- H Li
- H-C Liao
- HM Hout van den
- Jean Mathieu
- JM Zook
- Joan Keutzer
- K Retterer
- L Hobson-Webb
- Laura Dempsey-Nunez
- LH Hoefsloot
- M Bartoli
- M Kroos
- M Scoto
- Marie-France Rioux
- MB Consugar
- MG Ausems
- MH Gelb
- Michel Boutin
- MJ Landrum
- ML Metzker
- MMP Hermans
- MP Wicklund
- NB Romero
- P Cingolani
- Paula J. Waters
- Pierre-Etienne Jacques
- Priya Kishnani
- PS Kishnani
- PS Kishnani
- PS Kishnani
- PS Samarakoon
- PV Hopkins
- R Tan
- RM Jack
- RR Howell
- S Mercier
- S Richards
- Sandrine Larue
- SJ Piteau
- SM Oba-Shinjo
- Stephanie Austin
- Sébastien Chenier
- Sébastien Lévesque
- TP Mechtler
- Valérie Désilets
- Walla Al-Hertani
- X Liu
- Y Dai
- Y Sun
- YH Chien
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
HE-LHC: The High-Energy Large Hadron Collider: Future Circular Collider Conceptual Design Report Volume 4
- Author
- Abada A
- Abbrescia M
- AbdusSalam SS
- Abdyukhanov I
- Abelleira Fernandez J
- Abramov A
- Aburaia M
- Acar AO
- Adzic PR
- Agrawal P
- Aguilar-Saavedra JA
- Aguilera-Verdugo JJ
- Aiba M
- Aichinger I
- Aielli G
- Akay A
- Akhundov A
- Aksakal H
- Albacete JL
- Albergo S
- Alekou A
- Aleksa M
- Aleksan R
- Alemany Fernandez RM
- Alexahin Y
- Alia RG
- Alioli S
- Alipour Tehrani N
- Allanach BC
- Allport PP
- Altinli M
- Altmannshofer W
- Ambrosio G
- Amorim D
- Amstutz O
- Anderlini L
- Andreazza A
- Andreini M
- Andriatis A
- Andris C
- Andronic A
- Angelucci M
- Antinori F
- Antipov SA
- Antonelli M
- Antonello M
- Antonioli P
- Antusch S
- Anulli F
- Apolinario L
- Apollinari G
- Apollonio A
- Appeloe D
- Appleby RB
- Apyan A
- Apyan A
- Arbey A
- Arbuzov A
- Arduini G
- Ari V
- Arias S
- Armesto N
- Arnaldi R
- Arsenyev SA
- Arzeo M
- Asai S
- Aslanides E
- Assmann RW
- Astapovych D
- Atanasov M
- Atieh S
- Attie D
- Auchmann B
- Audurier A
- Aull S
- Aumon S
- Aune S
- Avino F
- Avrillaud G
- Aydin G
- Azatov A
- Azuelos G
- Azzi P
- Azzolini O
- Azzurri P
- Bacchetta N
- Bacchiocchi E
- Bachacou H
- Baek YW
- Baglin V
- Bai Y
- Baird S
- Baker MJ
- Baldwin MJ
- Ball AH
- Ballarino A
- Banerjee S
- Barber DP
- Barducci D
- Barjhoux P
- Barna D
- Barnafoldi GG
- Barnes MJ
- Barr A
- Barranco Garcia J
- Barreiro Guimaraes da Costa J
- Bartmann W
- Baryshevsky V
- Barzi E
- Bass SA
- Bastianin A
- Baudouy B
- Bauer F
- Bauer M
- Baumgartner T
- Bautista-Guzman I
- Bayindir C
- Beaudette F
- Bedeschi F
- Beguin M
- Bellafont I
- Bellagamba L
- Bellegarde N
- Belli E
- Bellingeri E
- Bellini F
- Bellomo G
- Belomestnykh S
- Bencivenni G
- Benedikt M
- Bernardi G
- Bernardi J
- Bernet C
- Bernhardt JM
- Bernini C
- Berriaud C
- Bertarelli A
- Bertolucci S
- Besana MI
- Besancon M
- Beznosov O
- Bhat C
- Bhat P
- Biagini ME
- Biarrotte J-L
- Bibet Chevalier A
- Bielert ER
- Biglietti M
- Bilei GM
- Bilki B
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- Bishara F
- Blanco-Garcia OR
- Blanquez FR
- Blekman F
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- Boels R
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- Bogomyagkov A
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- Bozzi C
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- Britzger D
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- Camporesi T
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- Chaikovska I
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- Chanal D
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- Charles J
- Charles TK
- Chattopadhyay S
- Chehab R
- Chekanov SV
- Chen N
- Chernoded A
- Chetvertkova V
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- Chiarelli G
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- Chiesa M
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- Childers JT
- Chmielinska A
- Cholakian A
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- Chorowski M
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- Cibinetto G
- Ciftci AK
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- Clark PJ
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- Cook CTA
- Cooley L
- Corcella G
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- Correia-Rodrigues H
- Costa Pinto P
- Costanza F
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- Crivellin A
- Croteau JF
- Crouch M
- Cruz Alaniz E
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- Curti J
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- D'Agnolo RT
- D'Aloia Schwartzentruber L
- D'Ambrosio G
- D'Auria S
- D'Auria V
- d'Enterria D
- D'Onofrio M
- da Silva W
- da Silveira GG
- Dachauer C
- Daibo M
- Dainese A
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- Daljevec A
- Dallapiazza W
- Dam M
- Das SP
- DasBakshi S
- David A
- Davidek T
- de Blas J
- De Curtis S
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- de Florian D
- de Jong SJ
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- De Roeck A
- de Vivie de Regie JB
- Deandrea A
- Debono CJ
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- Dell'Acqua A
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- Duda P
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- Gianotti F
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- Thomas S
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- Yang HJ
- Yao W-M
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- Yilmaz A
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- Yoo H-D
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- Zaborowska A
- Zadeh SG
- Zahnd M
- Zanetti M
- Zanotto L
- Zawiejski L
- Zeiler P
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- Zevi Dell Porta G
- Zhang C
- Zhang H
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- Zhang Z
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- Zhong Y-M
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- Zinn-Justin J
- Zivkovic L
- Zlobin AV
- Zobov M
- Zupan J
- Zurita J
- Publication venue
- SPRINGER HEIDELBERG
- Publication date
- 01/07/2019
- Field of study
In response to the 2013 Update of the European Strategy for Particle Physics (EPPSU), the Future Circular Collider (FCC) study was launched as a world-wide international collaboration hosted by CERN. The FCC study covered an energy-frontier hadron collider (FCC-hh), a highest-luminosity high-energy lepton collider (FCC-ee), the corresponding 100 km tunnel infrastructure, as well as the physics opportunities of these two colliders, and a high-energy LHC, based on FCC-hh technology. This document constitutes the third volume of the FCC Conceptual Design Report, devoted to the hadron collider FCC-hh. It summarizes the FCC-hh physics discovery opportunities, presents the FCC-hh accelerator design, performance reach, and staged operation plan, discusses the underlying technologies, the civil engineering and technical infrastructure, and also sketches a possible implementation. Combining ingredients from the Large Hadron Collider (LHC), the high-luminosity LHC upgrade and adding novel technologies and approaches, the FCC-hh design aims at significantly extending the energy frontier to 100 TeV. Its unprecedented centre-of-mass collision energy will make the FCC-hh a unique instrument to explore physics beyond the Standard Model, offering great direct sensitivity to new physics and discoveries
FCC-ee: The Lepton Collider: Future Circular Collider Conceptual Design Report Volume 2
- Author
- Abada A
- Abbrescia M
- AbdusSalam SS
- Abdyukhanov I
- Abramov A
- Aburaia M
- Acar AO
- Adzic PR
- Agaliotis EL
- Agrawal P
- Aguilar-Saavedra JA
- Aguilera-Verdugo JJ
- Aiba M
- Aichinger I
- Aielli G
- Akay A
- Akhundov A
- Aksakal H
- Alaniz EC
- Albacete JL
- Albergo S
- Alekou A
- Aleksa M
- Aleksan R
- Alexahin Y
- Alia RG
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- Allanach BC
- Allport PP
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- Altmannshofer W
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- Publication venue
- SPRINGER HEIDELBERG
- Publication date
- 01/06/2019
- Field of study
In response to the 2013 Update of the European Strategy for Particle Physics, the Future Circular Collider (FCC) study was launched, as an international collaboration hosted by CERN. This study covers a highest-luminosity high-energy lepton collider (FCC-ee) and an energy-frontier hadron collider (FCC-hh), which could, successively, be installed in the same 100 km tunnel. The scientific capabilities of the integrated FCC programme would serve the worldwide community throughout the 21st century. The FCC study also investigates an LHC energy upgrade, using FCC-hh technology. This document constitutes the second volume of the FCC Conceptual Design Report, devoted to the electron-positron collider FCC-ee. After summarizing the physics discovery opportunities, it presents the accelerator design, performance reach, a staged operation scenario, the underlying technologies, civil engineering, technical infrastructure, and an implementation plan. FCC-ee can be built with today’s technology. Most of the FCC-ee infrastructure could be reused for FCC-hh. Combining concepts from past and present lepton colliders and adding a few novel elements, the FCC-ee design promises outstandingly high luminosity. This will make the FCC-ee a unique precision instrument to study the heaviest known particles (Z, W and H bosons and the top quark), offering great direct and indirect sensitivity to new physics
FCC Physics Opportunities: Future Circular Collider Conceptual Design Report Volume 1
- Author
- Abada A
- Abbrescia M
- AbdusSalam SS
- Abdyukhanov I
- Abramov A
- Aburaia M
- Acar AO
- Adzic PR
- Agrawal P
- Aguilar-Saavedra JA
- Aguilera-Verdugo JJ
- Ahnen JV
- Aiba M
- Aichinger I
- Aielli G
- Akay A
- Akhundov A
- Aksakal H
- Alaniz EC
- Albacete JL
- Albergo S
- Alekou A
- Aleksa M
- Aleksan R
- Alexahin Y
- Alia RG
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- Altmannshofer W
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- Eskola KJ
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- Widorski M
- Wiedemann UA
- Wienands H-U
- Wilkinson G
- Williams PH
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- Wohlfahrt A
- Wojton T
- Wollmann D
- Womersley J
- Woog D
- Wu X
- Wulzer A
- Yanehsari MK
- Yanehsari MK
- Yang G
- Yang HJ
- Yao W-M
- Yazgan E
- Yermolchik V
- Yildiz HD
- Yilmaz A
- Yilmaz A
- Yoo H-D
- Yost SA
- You T
- Young C
- Yu F
- Yu T-T
- Zaborowska A
- Zadeh SG
- Zadeh SG
- Zahnd M
- Zanetti M
- Zanotto L
- Zawiejski L
- Zeiler P
- Zerlauth M
- Zernov SM
- Zevi Dell Porta G
- Zhang C
- Zhang H
- Zhang Y
- Zhang Z
- Zhao Z
- Zhong Y-M
- Zhou D
- Zhou J
- Zhuang P
- Zick G
- Zimmermann F
- Zinn-Justin J
- Zivkovic L
- Zlobin AV
- Zobov M
- Zupan J
- Zurita J
- Publication venue
- 'Springer Fachmedien Wiesbaden GmbH'
- Publication date
- 01/06/2019
- Field of study
We review the physics opportunities of the Future Circular Collider, covering its e+e-, pp, ep and heavy ion programmes. We describe the measurement capabilities of each FCC component, addressing the study of electroweak, Higgs and strong interactions, the top quark and flavour, as well as phenomena beyond the Standard Model. We highlight the synergy and complementarity of the different colliders, which will contribute to a uniquely coherent and ambitious research programme, providing an unmatchable combination of precision and sensitivity to new physics
FCC-hh: The Hadron Collider: Future Circular Collider Conceptual Design Report Volume 3
- Author
- Abada A
- Abbrescia M
- AbdusSalam SS
- Abdyukhanov I
- Abelleira Fernandez J
- Abramov A
- Aburaia M
- Acar AO
- Adzic PR
- Agrawal P
- Aguilar-Saavedra JA
- Aguilera-Verdugo JJ
- Aiba M
- Aichinger I
- Aielli G
- Akay A
- Akhundov A
- Aksakal H
- Albacete JL
- Albergo S
- Alekou A
- Aleksa M
- Aleksan R
- Alemany Fernandez RM
- Alexahin Y
- Alia RG
- Alioli S
- Alipour Tehrani N
- Allanach BC
- Allport PP
- Altinli M
- Altmannshofer W
- Ambrosio G
- Amorim D
- Amstutz O
- Anderlini L
- Andreazza A
- Andreini M
- Andriatis A
- Andris C
- Andronic A
- Angelucci M
- Antinori F
- Antipov SA
- Antonelli M
- Antonello M
- Antonioli P
- Antusch S
- Anulli F
- Apolinario L
- Apollinari G
- Apollonio A
- Appeloe D
- Appleby RB
- Apyan A
- Apyan A
- Arbey A
- Arbuzov A
- Arduini G
- Ari V
- Arias S
- Armesto N
- Arnaldi R
- Arsenyev SA
- Arzeo M
- Asai S
- Aslanides E
- Assmann RW
- Astapovych D
- Atanasov M
- Atieh S
- Attie D
- Auchmann B
- Audurier A
- Aull S
- Aumon S
- Aune S
- Avino F
- Avrillaud G
- Aydin G
- Azatov A
- Azuelos G
- Azzi P
- Azzolini O
- Azzurri P
- Bacchetta N
- Bacchiocchi E
- Bachacou H
- Baek YW
- Baglin V
- Bai Y
- Baird S
- Baker MJ
- Baldwin MJ
- Ball AH
- Ballarino A
- Banerjee S
- Barber DP
- Barducci D
- Barjhoux P
- Barna D
- Barnafoeldi GG
- Barnes MJ
- Barr A
- Barranco Garcia J
- Barreiro Guimaraes da Costa J
- Bartmann W
- Baryshevsky V
- Barzi E
- Bass SA
- Bastianin A
- Baudouy B
- Bauer F
- Bauer M
- Baumgartner T
- Bautista-Guzman I
- Bayindir C
- Beaudette F
- Bedeschi F
- Beguin M
- Bellafont I
- Bellagamba L
- Bellegarde N
- Belli E
- Bellingeri E
- Bellini F
- Bellomo G
- Belomestnykh S
- Bencivenni G
- Benedikt M
- Bernardi G
- Bernardi J
- Bernet C
- Bernhardt JM
- Bernini C
- Berriaud C
- Bertarelli A
- Bertolucci S
- Besana MI
- Besancon M
- Beznosov O
- Bhat C
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- Biagini ME
- Biarrotte J-L
- Bibet Chevalier A
- Bielert ER
- Biglietti M
- Bilei GM
- Bilki B
- Biscari C
- Bishara F
- Blanco-Garcia OR
- Blanquez FR
- Blekman F
- Blondel A
- Bluemlein J
- Boccali T
- Boels R
- Bogacz SA
- Bogomyagkov A
- Boine-Frankenheim O
- Boland MJ
- Bologna S
- Bolukbasi O
- Bomben M
- Bondarenko S
- Bonvini M
- Boos E
- Bordini B
- Bordry F
- Borghello G
- Borgonovi L
- Borowka S
- Bortoletto D
- Boscherini D
- Boscolo M
- Boselli S
- Bosley RR
- Bossu F
- Botta C
- Bottura L
- Boughezal R
- Boutin D
- Bovone G
- Bozbey A
- Bozovic Jelisavic I
- Bozzi C
- Bozzini D
- Braccini V
- Braibant-Giacomelli S
- Bramante J
- Braun-Munzinger P
- Briffa JA
- Britzger D
- Brodsky SJ
- Brooke JJ
- Bruce R
- Bruening O
- Bruna E
- Brunner K
- Brunner O
- Bruzzone P
- Buffat X
- Bulyak E
- Burkart F
- Burkhardt H
- Burnet J-P
- Butin F
- Buttazzo D
- Butterworth A
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- Cai Y
- Caiffi B
- Cairo V
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- Caliskan A
- Calvet D
- Calviani M
- Camalich JM
- Camarri P
- Campanelli M
- Camporesi T
- Canbay AC
- Canepa A
- Cantergiani E
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- Capeans M
- Cardarelli R
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- Carloni Calame CM
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- Carvalho A
- Casalbuoni S
- Casas J
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- Cerutti F
- Cervantes J
- Chaikovska I
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- Chanal D
- Chanal H
- Chance A
- Chance S
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- Chattopadhyay S
- Chehab R
- Chekanov SV
- Chen N
- Chernoded A
- Chetvertkova V
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- Childers JT
- Chmielinska A
- Cholakian A
- Chomaz P
- Chorowski M
- Chou W
- Chrzaszcz M
- Chyhyrynets E
- Cibinetto G
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- Cimino R
- Ciuchini M
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- Collaboration FCC
- Collamati F
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- Collot J
- Contino R
- Conventi F
- Cook CTA
- Cooley L
- Corcella G
- Cornell AS
- Corral GH
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- Costa Pinto P
- Costanza F
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- Craig N
- Crespo Garrido I
- Crivellin A
- Croteau JF
- Crouch M
- Cruz Alaniz E
- Cure B
- Curti J
- Curtin D
- Czech M
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- D'Aloia Schwartzentruber L
- D'Ambrosio G
- D'Auria S
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- d'Enterria D
- D'Onofrio M
- da Silva W
- da Silveira GG
- Dachauer C
- Daibo M
- Dainese A
- Dalena B
- Daljevec A
- Dallapiazza W
- Dam M
- Das SP
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- David A
- Davidek T
- de Blas J
- De Curtis S
- De Filippis N
- de Florian D
- de Jong SJ
- De Lucia E
- De Renstrom P Brueckman
- de Rijk G
- De Roeck A
- de Vivie de Regie JB
- Deandrea A
- Debono CJ
- Deghaye S
- Del Bo C
- Del Duca V
- Delikaris D
- Deliot F
- Dell'Acqua A
- Delle Rose L
- Delmastro M
- Demarteau M
- Denegri D
- Deniau L
- Denisov D
- Denizli H
- Denner A
- Derue F
- Deschamps O
- Descotes-Genon S
- Dev PSB
- Dewanjee RK
- Di Ciaccio A
- Di Cicco A
- Di Micco B
- Di Nezza P
- Di Vita S
- Dillon BM
- Doblhammer A
- Dominjon A
- Dordei F
- Drago A
- Draper P
- Drasal Z
- Drewes M
- du Pree T
- Duarte L
- Dubovyk I
- Duda P
- Dudarev A
- Dudko L
- Duellmann D
- Duenser M
- Duran Yildiz H
- Durante M
- Dutta S
- Duval F
- Duval JM
- Dydyshka Y
- Dziewit B
- Eisenhardt S
- Eisterer M
- Ekelof T
- El Khechen D
- Ellis J
- Ellis SA
- Ellison JA
- Elsener K
- Elsing M
- Enari Y
- Englert C
- Eriksson H
- Eskola KJ
- Esposito LS
- Etisken O
- Etzion E
- Fabbricatore P
- Falkowski A
- Falou A
- Faltova J
- Fan J
- Fano L
- Farilla A
- Farinelli R
- Farinon S
- Faroughy DA
- Fartoukh SD
- Faus-Golfe A
- Fawcett WJ
- Felici G
- Felsberger L
- Ferdeghini C
- Fernandez Navarro AM
- Fernandez-Tellez A
- Ferradas Troitino J
- Ferrara G
- Ferrari R
- Ferreira da Silva P
- Ferreira L
- Ferrera G
- Ferro F
- Fiascaris M
- Fiorendi S
- Fiorio C
- Fischer E
- Fischer O
- Flieger W
- Florio M
- Fonnesu D
- Fontanesi E
- Foppiani N
- Foraz K
- Forkel-Wirth D
- Forte S
- Fouaidy M
- Fournier D
- Fowler T
- Fox J
- Francavilla P
- Franceschini R
- Franchino S
- Franco E
- Freitas A
- Fuks B
- Furukawa K
- Furuseth SV
- Gabrielli E
- Gaddi A
- Galanti M
- Gallo E
- Ganjour S
- Gao J
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- Garcia Diaz V
- Garcia Perez M
- Garcia Tabares L
- Garion C
- Garzelli MV
- Garzia I
- Gascon-Shotkin SM
- Gaudio G
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- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 18/12/2018
- Field of study
In response to the 2013 Update of the European Strategy for Particle Physics (EPPSU), the Future Circular Collider (FCC) study was launched as a world-wide international collaboration hosted by CERN. The FCC study covered an energy-frontier hadron collider (FCC-hh), a highest-luminosity high-energy lepton collider (FCC-ee), the corresponding 100 km tunnel infrastructure, as well as the physics opportunities of these two colliders, and a high-energy LHC, based on FCC-hh technology. This document constitutes the third volume of the FCC Conceptual Design Report, devoted to the hadron collider FCC-hh. It summarizes the FCC-hh physics discovery opportunities, presents the FCC-hh accelerator design, performance reach, and staged operation plan, discusses the underlying technologies, the civil engineering and technical infrastructure, and also sketches a possible implementation. Combining ingredients from the Large Hadron Collider (LHC), the high-luminosity LHC upgrade and adding novel technologies and approaches, the FCC-hh design aims at significantly extending the energy frontier to 100 TeV. Its unprecedented centre of-mass collision energy will make the FCC-hh a unique instrument to explore physics beyond the Standard Model, offering great direct sensitivity to new physics and discoveries
HE-LHC: The High-Energy Large Hadron Collider
- Author
- Abada A
- Abbrescia M
- AbdusSalam SS
- Abdyukhanov I
- Abelleira Fernandez J
- Abramov A
- Aburaia M
- Acar AO
- Adzic PR
- Agrawal P
- Aguilar-Saavedra JA
- Aguilera-Verdugo JJ
- Aiba M
- Aichinger I
- Aielli G
- Akay A
- Akhundov A
- Aksakal H
- Albacete JL
- Albergo S
- Alekou A
- Aleksa M
- Aleksan R
- Alemany Fernandez RM
- Alexahin Y
- Alia RG
- Alioli S
- Alipour Tehrani N
- Allanach BC
- Allport PP
- Altinli M
- Altmannshofer W
- Ambrosio G
- Amorim D
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- Andronic A
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- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 18/12/2018
- Field of study
In response to the 2013 Update of the European Strategy for Particle Physics (EPPSU), the Future Circular Collider (FCC) study was launched as a world-wide international collaboration hosted by CERN. The FCC study covered an energy-frontier hadron collider (FCC-hh), a highest-luminosity high-energy lepton collider (FCC-ee), the corresponding 100 km tunnel infrastructure, as well as the physics opportunities of these two colliders, and a high-energy LHC, based on FCC-hh technology. This document constitutes the third volume of the FCC Conceptual Design Report, devoted to the hadron collider FCC-hh. It summarizes the FCC-hh physics discovery opportunities, presents the FCC-hh accelerator design, performance reach, and staged operation plan, discusses the underlying technologies, the civil engineering and technical infrastructure, and also sketches a possible implementation. Combining ingredients from the Large Hadron Collider (LHC), the high-luminosity LHC upgrade and adding novel technologies and approaches, the FCC-hh design aims at significantly extending the energy frontier to 100 TeV. Its unprecedented centre-of-mass collision energy will make the FCC-hh a unique instrument to explore physics beyond the Standard Model, offering great direct sensitivity to new physics and discoveries
FCC-hh: The Hadron Collider: Future Circular Collider Conceptual Design Report Volume 3
- Author
- Abada A
- Abbrescia M
- AbdusSalam SS
- Abdyukhanov I
- Abelleira Fernandez J
- Abramov A
- Aburaia M
- Acar AO
- Adzic PR
- Agrawal P
- Aguilar-Saavedra JA
- Aguilera-Verdugo JJ
- Aiba M
- Aichinger I
- Aielli G
- Akay A
- Akhundov A
- Aksakal H
- Albacete JL
- Albergo S
- Alekou A
- Aleksa M
- Aleksan R
- Alemany Fernandez RM
- Alexahin Y
- Alia RG
- Alioli S
- Alipour Tehrani N
- Allanach BC
- Allport PP
- Altinli M
- Altmannshofer W
- Ambrosio G
- Amorim D
- Amstutz O
- Anderlini L
- Andreazza A
- Andreini M
- Andriatis A
- Andris C
- Andronic A
- Angelucci M
- Antinori F
- Antipov SA
- Antonelli M
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- Treille D
- Trentadue L
- Tricoli A
- Tricomi A
- Trischuk W
- Tropin IS
- Tuchming B
- Tudora AA
- Turbiarz B
- Turk Cakir I
- Turri M
- Tydecks T
- Usovitsch J
- Uythoven J
- Vaglio R
- Valassi A
- Valchkova F
- Valdivia Garcia MA
- Vale Silva L
- Valente P
- Valente RU
- Valente-Feliciano A-M
- Valentino G
- Valet JM
- Valizadeh R
- Valle JWF
- Vallecorsa S
- Vallone G
- van Leeuwen M
- van Rienen UH
- van Riesen-Haupt L
- Varasteh M
- Vecchi L
- Vedrine P
- Velev G
- Veness R
- Ventura A
- Venturini Delsolaro W
- Verducci M
- Verhaaren CB
- Vernieri C
- Verweij AP
- Verwilligen O
- Viazlo O
- Vicini A
- Viehhauser G
- Vignaroli N
- Vignolo M
- Vitrano A
- Vivarelli I
- Vlachos S
- Voelkl V
- Vogel M
- Vogt DM
- Volkov P
- Volpini G
- von Ahnen J
- Vorotnikov G
- Voutsinas GG
- Vysotsky V
- Wagner U
- Wallny R
- Wang K
- Wang L-T
- Wang R
- Ward BFL
- Watson NK
- Watson TP
- Weiland C
- Weinzierl S
- Welsch CP
- Wenninger J
- Widorski M
- Wiedemann UA
- Wienands H-U
- Wilkinson G
- Williams PH
- Winter A
- Wohlfahrt A
- Wojton T
- Wollmann D
- Womersley J
- Woog D
- Ws Z
- Wu X
- Wulzer A
- Yanehsari MK
- Yang G
- Yang HJ
- Yao W-M
- Yazgan E
- Yermolchik V
- Yilmaz A
- Yilmaz A
- Yoo H-D
- Yost SA
- You T
- Young C
- Yu F
- Yu T-T
- Zaborowska A
- Zadeh SG
- Zahnd M
- Zanetti M
- Zanotto L
- Zawiejski L
- Zeiler P
- Zerlauth M
- Zernov SM
- Zevi Dell Porta G
- Zhang C
- Zhang H
- Zhang Y
- Zhang Z
- Zhao Z
- Zhong Y-M
- Zhou D
- Zhou J
- Zhuang P
- Zick G
- Zimmermann F
- Zinn-Justin J
- Zivkovic L
- Zlobin AV
- Zobov M
- Zupan J
- Zurita J
- Publication venue
- SPRINGER HEIDELBERG
- Publication date
- 01/07/2019
- Field of study
In response to the 2013 Update of the European Strategy for Particle Physics (EPPSU), the Future Circular Collider (FCC) study was launched as a world-wide international collaboration hosted by CERN. The FCC study covered an energy-frontier hadron collider (FCC-hh), a highest-luminosity high-energy lepton collider (FCC-ee), the corresponding 100 km tunnel infrastructure, as well as the physics opportunities of these two colliders, and a high-energy LHC, based on FCC-hh technology. This document constitutes the third volume of the FCC Conceptual Design Report, devoted to the hadron collider FCC-hh. It summarizes the FCC-hh physics discovery opportunities, presents the FCC-hh accelerator design, performance reach, and staged operation plan, discusses the underlying technologies, the civil engineering and technical infrastructure, and also sketches a possible implementation. Combining ingredients from the Large Hadron Collider (LHC), the high-luminosity LHC upgrade and adding novel technologies and approaches, the FCC-hh design aims at significantly extending the energy frontier to 100 TeV. Its unprecedented centre of-mass collision energy will make the FCC-hh a unique instrument to explore physics beyond the Standard Model, offering great direct sensitivity to new physics and discoveries
Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk
- Author
- A Kundaje
- Aarno Palotie
- Abhishek K Sarkar
- AE Locke
- Albert V Smith
- Albertine J Oldehinkel
- Alexander Teumer
- Alison M Dunning
- Alkes L Price
- Amanda B Spurdle
- Andres Metspalu
- André G Uitterlinden
- Angela Cox
- Anna M Mulligan
- Anna Murray
- Anneli Pouta
- Annette Peters
- Antonietta Robino
- AP Abreu
- Archie Campbell
- Arto Mannermaa
- AS Parent
- AV Segrè
- Ayellet V Segrè
- Ayush Giri
- B Bulik-Sullivan
- Behrooz Z Alizadeh
- BK Bulik-Sullivan
- Bruce H R Wolffenbuttel
- Brumat Marco
- C Gao
- C Sudlow
- Caroline Hayward
- Caterina M Barbieri
- Catharina A Hartman
- Christa Meisinger
- Christian Gieger
- Chunyan He
- Cinzia F Sala
- CJ Willer
- Claudia Langenberg
- Cristina Menni
- Dale R Nyholt
- Daniel F Gudbjartsson
- Daniel I Chasman
- Daniela Ruggiero
- Daniela Toniolo
- David Hinds
- David J Hunter
- David Karasik
- David Porteous
- Debbie A Lawlor
- Deborah J Thompson
- Dennis O Mook-Kanamori
- Diana L Cousminer
- Dieter Flesch-Janys
- Diether Lambrechts
- Digna R Velez Edwards
- Doris Stöckl
- Dorret I Boomsma
- Douglas F Easton
- Eco J C N de Geus
- Eleonora Porcu
- Elisabeth Altmaier
- Elisabeth Widen
- Ellen A Nohr
- Ellen Demerath
- Emily Hallberg
- Emmi Tikkanen
- ER Gamazon
- Eric Boerwinkle
- Eulalia Catamo
- Eva Albrecht
- Felix R Day
- Fergus J Couch
- FR Day
- FR Day
- Francesco Cucca
- Frank Hu
- Frits R Rosendaal
- Genevieve LaChance
- George Davey Smith
- George McMahon
- Georgia Chenevix-Trench
- Gerardo Heiss
- GG Giles
- Gonneke Willemsen
- Graham G Giles
- Grant W Montgomery
- H Mbarek
- H Zhu
- H Zhu
- Hae Kyung Im
- Hamdi Mbarek
- Hannes Helgason
- Harald Grallert
- Harold Snieder
- Harry Campbell
- Heli Nevanlinna
- Henry Völzke
- Hermann Brenner
- Hilary Finucane
- Hiltrud Brauch
- HJ Westra
- HK Finucane
- Iffat Rahman
- Igor Rudan
- Ilaria Gandin
- Ilja M Nolte
- Immaculata De Vivo
- Irene L Andrulis
- Isabel dos-Santos-Silva
- Ivana Kolcic
- J Bowden
- J Ernst
- J Zhang
- James F Wilson
- Javier Benitez
- Jenny A Visser
- Jenny Chang-Claude
- Jian'an Luan
- Jing Hua Zhao
- Jingmei Li
- Joanne M Murabito
- Joe Dennis
- Johan G Eriksson
- John L Hopper
- John R B Perry
- Jonathan P Tyrer
- Joop S E Laven
- Jouke J Hottenga
- Joyce Y Tung
- JR Perry
- JR Perry
- JR Perry
- Judith S Brand
- Julian Peto
- Julie E Buring
- K Bhaskaran
- K Wehkalampi
- Kamila Czene
- Kari Stefansson
- Katharina E Schraut
- Katherine S Pollard
- Katherine S Ruth
- Kathryn L Lunetta
- Ken K Ong
- KK Ong
- KL Lunetta
- Ko Willems van Dijk
- Konstantin Strauch
- Kyriaki Michailidou
- L de Vries
- Laura Crisponi
- Lavinia Paternoster
- Lenore J Launer
- Lili Milani
- Linda Broer
- Lindsay Fernández-Rhodes
- Lisette Stolk
- Lude Franke
- Luigi Ferrucci
- Lynda M Rose
- M Ahlgren
- M Arfan Ikram
- Maartje J Hooning
- Magdalena Zoledziewska
- Manjeet K Bolla
- Manolis Kellis
- Marek Zygmunt
- Marike Gabrielson
- Marina Ciullo
- Maristella Steri
- Marjanka K Schmidt
- Marjo-Riitta Järvelin
- Mark I McCarthy
- Marzyeh Amini
- Massimo Mangino
- Matthias W Beckmann
- Meir Stampfer
- Melissa C Southey
- Michela Traglia
- Mike A Nalls
- Mitul Shah
- Murielle Bochud
- Nancy Pedersen
- Natalia Perjakova
- Nicholas G Martin
- Nicholas J Timpson
- Nicholas J Wareham
- Nora Franceschini
- Ozren Polasek
- Paolo Radice
- Pascal Guénel
- Patrick Sulem
- Patrik K E Magnusson
- Pau Navarro
- Paul D P Pharoah
- Paul M Ridker
- Penelope A Lind
- Per Hall
- Peter A Fasching
- Peter Devilee
- Peter K Joshi
- Peter Kraft
- Peter Vollenweider
- Po-Ru Loh
- PR Loh
- Qin Wang
- Raymond Noordam
- Reedik Mägi
- Renée de Mutsert
- Rico Rueedi
- Robert A Scott
- Robert Karlsson
- Robert Winqvist
- Roger L Milne
- Rossella Sorice
- S Smemo
- Sandosh Padmanabhan
- Sara Lindstrom
- Sarah E Medland
- Sean Whalen
- Sheila Ulivi
- SM van den Berg
- SS Rao
- ST da Rocha
- Stefania Bandinelli
- Stefania Lenarduzzi
- Stephen Chanock
- Stig E Bojesen
- Susan M Ring
- Sven Bergmann
- Tamara B Harris
- Tanguy Corre
- Teresa Nutile
- Thibaud Boutin
- Thomas Brüning
- Thomas Meitinger
- Thérèse Truong
- Tim D Spector
- Toshiko Tanaka
- Tracy A O'Mara
- TW Winkler
- Tõnu Esko
- Ulla Sovio
- Unnur Thorsteindottir
- Ute Hamann
- Uwe Völker
- Veronique Vitart
- Vilmundur Gudnason
- Y Baran
- Y Guo
- YongMei Liu
- Z Zhu
- Zoltan Kutalik
- Publication venue
- Nature Genetics
- Publication date
- 31/03/2016
- Field of study
The timing of puberty is a highly polygenic childhood trait that is epidemiologically associated with various adult diseases. Using 1000 Genomes Project–imputed genotype data in up to ~370,000 women, we identify 389 independent signals (P < 5 × 10−8) for age at menarche, a milestone in female pubertal development. In Icelandic data, these signals explain ~7.4% of the population variance in age at menarche, corresponding to ~25% of the estimated heritability. We implicate ~250 genes via coding variation or associated expression, demonstrating significant enrichment in neural tissues. Rare variants near the imprinted genes MKRN3 and DLK1 were identified, exhibiting large effects when paternally inherited. Mendelian randomization analyses suggest causal inverse associations, independent of body mass index (BMI), between puberty timing and risks for breast and endometrial cancers in women and prostate cancer in men. In aggregate, our findings highlight the complexity of the genetic regulation of puberty timing and support causal links with cancer susceptibility
Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals
- Author
- Ahluwalia TS
- Akiyama M
- Arnlov J
- Asvold BO
- Bakker SJL
- Banas B
- Bansal N
- Bergler T
- Bergmann S
- Biggs ML
- Biino G
- Bochud M
- Boehnke M
- Boerwinkle E
- Boger CA
- Bottinger EP
- Boutin TS
- Brenner H
- Brumpton B
- Burkhardt R
- Campbell A
- Campbell H
- Carroll RJ
- Catamo E
- Chai JF
- Chambers JC
- Chasman DI
- Chee ML
- Cheng CY
- Christensen K
- Chu AY
- Citterio L
- Ciullo M
- Cocca M
- Concas MP
- Cook JP
- Coresh J
- Corre T
- Correa A
- Cusi D
- Czamara D
- Daw EW
- de Borst MH
- De Grandi A
- de Mutsert R
- de Vries APJ
- Dehghan A
- Delgado GE
- Devuyst O
- Dittrich K
- Divers J
- Dorajoo R
- Eckardt KU
- Ehret G
- Elliott P
- Endlich K
- Esko T
- Evans MK
- Feitosa MF
- Felicita SC
- Felix JF
- Feresin A
- Foo VHX
- Francescatto M
- Franke A
- Freedman BI
- Freitag-Wolf S
- Friedlander Y
- Fuchsberger C
- Gansevoort RT
- Gao H
- Gao X
- Gasparini P
- Gaziano JM
- Ghanbari M
- Ghasemi S
- Giedraitis V
- Gieger C
- Girotto G
- Gogele M
- Gordon SD
- Gorski M
- Graham SE
- Gudbjartsson DF
- Gudnason V
- Guilianini F
- Gunther F
- Guo F
- Halbritter J
- Hallan S
- Haller T
- Hamet P
- Hartman CA
- Hayward C
- Heid IM
- Heng CK
- Hicks AA
- Ho K
- Hofer E
- Holm H
- Hoppmann A
- Horn K
- Huang W
- Hung AM
- Hutri-Kahonen N
- Hveem K
- Hwang SJ
- Ikram MA
- Ising M
- Jaddoe VWV
- Jakobsdottir J
- Jonas JB
- Joshi PK
- Josyula NS
- Jung B
- Kahonen M
- Kamatani Y
- Kammerer CM
- Kanai M
- Kastarinen M
- Kavousi M
- Kerr SM
- Khor CC
- Kiess W
- Kirsten H
- Klaric L
- Kleber ME
- Koenig W
- Kooner JS
- Korner A
- Kottgen A
- Kovacs P
- Kramer BK
- Kramer H
- Kronenberg F
- Kubo M
- Kuokkanen M
- Kuusisto J
- La Bianca M
- Laakso M
- Lange LA
- Langefeld CD
- Lanzani C
- Launer LJ
- Lee JJM
- Lehtimaki T
- Li HT
- Li M
- Li Y
- Lieb W
- Lim SC
- Lind L
- Lindgren CM
- Liu JJ
- Loeffler M
- Loos RJF
- Lucae S
- Lukas MA
- Lyytikainen LP
- Magi R
- Magnusson PKE
- Mahajan A
- Manunta P
- Marten J
- Martin NG
- Martins J
- Marz W
- Mascalzoni D
- Matsuda K
- Meitinger T
- Melander O
- Metspalu A
- Milaneschi Y
- Miliku K
- Mishra PP
- Mohlke KL
- Mononen N
- Montgomery GW
- Mook-Kanamori DO
- Morgan A
- Morris AP
- Mychaleckyj JC
- Nadkarni GN
- Nalls MA
- Nauck M
- Nikus K
- Ning B
- Nolte IM
- Noordam R
- Nutile T
- O'Connell J
- O'Donoghue ML
- Okada Y
- Olafsson I
- Oldehinkel AJ
- Orho-Melander M
- Padmanabhan S
- Palmer ND
- Parsa A
- Patil SB
- Pattaro C
- Pendergrass SA
- Penninx BWJH
- Perola M
- Peters A
- Phillips LS
- Pirastu N
- Piratsu M
- Pistis G
- Podgornaia AI
- Polasek O
- Pontali G
- Ponte B
- Porteous DJ
- Pramstaller PP
- Preuss MH
- Province MA
- Psaty BM
- Rabelink TJ
- Raffield LM
- Raitakari OT
- Rasheed H
- Reilly DF
- Rice KM
- Ridker PM
- Rivadeneira F
- Rizzi F
- Robinson-Cohen C
- Rosenkranz AR
- Rossing P
- Rotter JI
- Rowan BX
- Rudan I
- Rueedi R
- Ruggiero D
- Ryan KA
- Sabanayagam C
- Salomaa V
- Salvi E
- Schmidt H
- Schmidt R
- Scholz M
- Schottker B
- Schulz CA
- Schupf N
- Sedaghat S
- Shaffer CM
- Sieber KB
- Sim RZH
- Sim XL
- Smith AV
- Smith BH
- Snieder H
- Spedicati B
- Spracklen CN
- Stanzick KJ
- Stark KJ
- Stefansson K
- Strauch K
- Stringham HM
- Stumvoll M
- Sulem P
- Sveinbjornsson G
- Svensson PO
- Tai ES
- Tan NYQ
- Tao R
- Taylor KD
- Tayo B
- Teren A
- Teumer A
- Tham YC
- Thiery J
- Thio CHL
- Thomas LF
- Thorsteinsdottir U
- Tin A
- Toniolo D
- Tonjes A
- Tremblay J
- Tzoulaki I
- Vaccargiu S
- van Dam RM
- van der Harst P
- van der Most PJ
- Vanderwerff BR
- Verweij N
- Vitart V
- Vogelezang S
- Volker U
- Vollenweider P
- Waeber G
- Waldenberger M
- Wallentin L
- Wang CL
- Wang YX
- Waterworth DM
- Wei WB
- White HD
- Whitfield JB
- Willer CJ
- Wilson JF
- Winkler TW
- Wojczynski MK
- Wong TY
- Wuttke M
- Xu J
- Yang Q
- Yasuda M
- Yerges-Armstrong LM
- Yu Z
- Zhang WH
- Zonderman AB
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 27/10/2022
- Field of study
A large-scale GWAS provides insight on diabetes-dependent genetic effects on the glomerular filtration rate, a common metric to monitor kidney health in disease.Reduced glomerular filtration rate (GFR) can progress to kidney failure. Risk factors include genetics and diabetes mellitus (DM), but little is known about their interaction. We conducted genome-wide association meta-analyses for estimated GFR based on serum creatinine (eGFR), separately for individuals with or without DM (nDM = 178,691, nnoDM = 1,296,113). Our genome-wide searches identified (i) seven eGFR loci with significant DM/noDM-difference, (ii) four additional novel loci with suggestive difference and (iii) 28 further novel loci (including CUBN) by allowing for potential difference. GWAS on eGFR among DM individuals identified 2 known and 27 potentially responsible loci for diabetic kidney disease. Gene prioritization highlighted 18 genes that may inform reno-protective drug development. We highlight the existence of DM-only and noDM-only effects, which can inform about the target group, if respective genes are advanced as drug targets. Largely shared effects suggest that most drug interventions to alter eGFR should be effective in DM and noDM.</p
Bilateral anterior opticus neuritis in a five-year-old girl
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
- …