5 research outputs found
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
- Author
- A Chapgier
- A González-Pérez
- Alicia Oshlack
- Alison Yeung
- Belinda Chong
- C Alby
- CF Wright
- Charlotte Anderson
- Christiane Theda
- CJ Saunders
- CL Beaulieu
- Clara Gaff
- CS Richards
- David J. Amor
- Dylan Mordaunt
- Emma Creed
- GA Van der Auwera
- Gemma R. Brett
- George McGillivray
- H Lee
- H Li
- Heidi Peters
- IF Fokkema
- Ivan Macciocca
- Joy Yaplito-Lee
- JX Chong
- K Boycott
- K Neveling
- K Wang
- Katrina M. Bell
- KM Boycott
- Lilian Downie
- LK Willig
- M Girdea
- MA Simpson
- Maie Walsh
- Monique M. Ryan
- Natalie Thorne
- Patrick Yap
- Paul A. James
- Paul G. Ekert
- Peter Georgeson
- R Bachmann-Gagescu
- Ravi Savarirayan
- Richard J. Leventer
- S Dupuis
- S El Chehadeh-Djebbar
- S Kondo
- S Roosing
- SE Soden
- SH Kevelam
- Shannon Cowie
- Simon Sadedin
- SL Sawyer
- SP Sadedin
- SP Sadedin
- Susan M White
- TB Haack
- Tiong Y. Tan
- TJ Dixon-Salazar
- W McLaren
- XF Kong
- Y Yang
- Y Yang
- Zornitza Stark
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full textMitochondrial Disease in Childhood: Nuclear Encoded
- Author
- A Agostino
- A Amiot
- A Jordanova
- A Munnich
- A Poretti
- A Rötig
- A Spinazzola
- A Spinazzola
- A Suomalainen
- Amy C. Goldstein
- AR Bicknese
- AS Lebre
- BH Cohen
- C Garone
- C Miller
- C Nogueira
- C Qunzii
- CN Joshi
- CT Moraes
- D Ghezzi
- D Leigh
- D Skladal
- DC DeVivo
- DJ Pagliarini
- DM Kirby
- DP Dimmock
- DR Johns
- DR Thorburn
- DR Thorburn
- E MartĂn-Hernández
- E Sarzi
- EA Shoubridge
- EH Kossoff
- F Molinari
- F Palmieri
- F Palmieri
- F Scaglia
- F Scaglia
- FB Axelrod
- G Goethem Van
- G Goethem Van
- G Goethem Van
- GC Scheper
- GM Enns
- H Dahl
- H Ito
- H Mandel
- H Matsutani
- H Reichmann
- HC Kang
- I Ogilvie
- I Visapää
- J Finsterer
- J Finsterer
- J Finsterer
- J Finsterer
- J Finsterer
- J Finsterer
- J Finsterer
- J Loeffen
- J Shoffner
- J Towbin
- J Yaplito-Lee
- JA Mayr
- JD Stewart
- JE Riggs
- JL Loeffen
- Jodie M. Vento
- JP Kemp
- JT Hinson
- JV Leonard
- K Kanjwal
- K Roesch
- K Sakushima
- KV Nguyen
- L Farina
- L Hagenfeldt
- L Maldergem Van
- L Meirleir De
- L Salviati
- LC LĂłpez
- LJ Wong
- LS Kaguni
- M Bourgeois
- M Deschauer
- M Fichera
- M Schiff
- MA Grönlund
- MA Martin
- MA Mullie
- MB Delatycki
- MJ Bennett
- N Brunetti-Pierri
- NJ Newman
- O Barel
- P Amati-Bonneau
- P Lonlay de
- P Niaudet
- P Rinaldo
- PG Barth
- Poonam Bhatia
- R Fadic
- R Haas
- R Haas
- R Horvath
- R McFarland
- R Wick
- RH Triepels
- RK Naviaux
- RP Saneto
- S DiMauro
- S DiMauro
- S DiMauro
- S DiMauro
- S DiMauro
- S DiMauro
- S Edvardson
- S El Sabbagh
- S Haut
- S Nangia
- S Ogasahara
- S Parikh
- S Parikh
- S Pitkanen
- S Rahman
- S Rahman
- S Tang
- S ZĂĽchner
- SB Wortmann
- SE Calvo
- SE Calvo
- SM Ksiazek
- T Bourgeron
- TA Willis
- TB Haack
- TH Vu
- V Massa
- V Tiranti
- WC Copeland
- WJ Koopman
- X Zhu
- Y Wang
- YM Lee
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full textCardiovascular autonomic neuropathies as complications of diabetes mellitus.
- Author
- A Ceriello
- A Frattola
- A Frustaci
- A Harkavyi
- AE Bharucha
- AG Kontopoulos
- AG Kontopoulos
- AI Vinik
- AI Vinik
- AI Vinik
- AJ Boulton
- AJ Drake
- AJ Drake-Holland
- AM Katz
- AR Albers
- C Communal
- C Jarnert
- C Paillole
- CF Burant
- CF Shakespeare
- CM Casellini
- CM Schannwell
- D An
- D Feuvray
- D LeRoith
- D Manzella
- D Tews
- D Ziegler
- D Ziegler
- D Ziegler
- D Ziegler
- DB Buxton
- DF Horrobin
- DJ Ewing
- DJ Ewing
- DJ Paulson
- DM Raffel
- DR Witte
- E Iwai-Kanai
- EJ Eichhorn
- EJ Henriksen
- ES Huang
- ES Huang
- FJ Wackers
- G Ambepityia
- G Pittenger
- GN Shivu
- GN Shivu
- GS Francis
- GW Goodwin
- H Tsutsui
- HJ Beijers
- HS Mueller
- I Vareniuk
- IA O'Brien
- IG Obrosova
- IG Obrosova
- J Buteau
- J Chung
- J Doupis
- J Gerritsen
- J Haft
- J Lumens
- J Yaplito-Lee
- JC Chatham
- JH Caldwell
- JL Edwards
- JM Pappachan
- JP Niskanen
- KM McDonald
- L Virág
- LH Opie
- M Arora
- M Brown
- M Packer
- M Rosengård-Bärlund
- M Scheuermann-Freestone
- M Schwaiger
- M Schönauer
- M Taskiran
- M Taskiran
- M Ungerer
- M Veglio
- MA Pfeifer
- Martin J. Stevens
- Michael Kuehl
- MJ Sampson
- MJ Stevens
- MJ Stevens
- MJ Stevens
- MK Piya
- ML Appel
- MM Al-Gayyar
- MM Givertz
- MR Bristow
- MR Carnethon
- MT La Rovere
- N Azad
- N Ejskjaer
- N Montano
- N Vallianou
- NE Block
- O Schsnell
- P Anagnostis
- P Gaede
- P Gaede
- P Gaede
- P Herrero
- P Luciani
- P Pacher
- P Pacher
- P Schrauwen
- P Valensi
- P Valensi
- PA Low
- PA Low
- PJ Schwartz
- PJ Weston
- PL Poulsen
- R Freeman
- R Furlan
- R Pop-Busui
- R Pop-Busui
- R Pop-Busui
- R Pop-Busui
- R Scognamiglio
- R Sivieri
- RE Kleiger
- RE Maser
- RE Maser
- RL Collins-Nakai
- RL Smith
- S Mudaliar
- S Scacco
- S Tesfaye
- S Tesfaye
- SH Ko
- SJ Dong
- SM Hirabara
- SR Colberg
- SY Felten
- T Ikeda
- T Iwai
- T Perry
- T Perry
- T Sugiyama
- TJ Orchard
- TP Didangelos
- TR DeGrado
- TW Latson
- V Granberg
- V Spallone
- V Spallone
- VR Drel
- VR Drel
- W Rathmann
- WR Kennedy
- X Du
- X Navarro
- Y Ohkubo
- Y Wei
- ZY Fang
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 28/02/2012
- Field of study
No full textCardiovascular autonomic neuropathies as complications of diabetes mellitus
- Author
- A Ceriello
- A Frattola
- A Frustaci
- A Harkavyi
- AE Bharucha
- AG Kontopoulos
- AG Kontopoulos
- AI Vinik
- AI Vinik
- AI Vinik
- AJ Boulton
- AJ Drake
- AJ Drake-Holland
- AM Katz
- AR Albers
- C Communal
- C Jarnert
- C Paillole
- CF Burant
- CF Shakespeare
- CM Casellini
- CM Schannwell
- D An
- D Feuvray
- D LeRoith
- D Manzella
- D Tews
- D Ziegler
- D Ziegler
- D Ziegler
- D Ziegler
- DB Buxton
- DF Horrobin
- DJ Ewing
- DJ Ewing
- DJ Paulson
- DM Raffel
- DR Witte
- E Iwai-Kanai
- EJ Eichhorn
- EJ Henriksen
- ES Huang
- ES Huang
- FJ Wackers
- G Ambepityia
- G Pittenger
- GN Shivu
- GN Shivu
- GS Francis
- GW Goodwin
- H Tsutsui
- HJ Beijers
- HS Mueller
- I Vareniuk
- IA O'Brien
- IG Obrosova
- IG Obrosova
- J Buteau
- J Chung
- J Doupis
- J Gerritsen
- J Haft
- J Lumens
- J Yaplito-Lee
- JC Chatham
- JH Caldwell
- JL Edwards
- JM Pappachan
- JP Niskanen
- KM McDonald
- L Virág
- LH Opie
- M Arora
- M Brown
- M Packer
- M Rosengård-Bärlund
- M Scheuermann-Freestone
- M Schwaiger
- M Schönauer
- M Taskiran
- M Taskiran
- M Ungerer
- M Veglio
- MA Pfeifer
- Martin J. Stevens
- Michael Kuehl
- MJ Sampson
- MJ Stevens
- MJ Stevens
- MJ Stevens
- MK Piya
- ML Appel
- MM Al-Gayyar
- MM Givertz
- MR Bristow
- MR Carnethon
- MT La Rovere
- N Azad
- N Ejskjaer
- N Montano
- N Vallianou
- NE Block
- O Schsnell
- P Anagnostis
- P Gaede
- P Gaede
- P Gaede
- P Herrero
- P Luciani
- P Pacher
- P Pacher
- P Schrauwen
- P Valensi
- P Valensi
- PA Low
- PA Low
- PJ Schwartz
- PJ Weston
- PL Poulsen
- R Freeman
- R Furlan
- R Pop-Busui
- R Pop-Busui
- R Pop-Busui
- R Pop-Busui
- R Scognamiglio
- R Sivieri
- RE Kleiger
- RE Maser
- RE Maser
- RL Collins-Nakai
- RL Smith
- S Mudaliar
- S Scacco
- S Tesfaye
- S Tesfaye
- SH Ko
- SJ Dong
- SM Hirabara
- SR Colberg
- SY Felten
- T Ikeda
- T Iwai
- T Perry
- T Perry
- T Sugiyama
- TJ Orchard
- TP Didangelos
- TR DeGrado
- TW Latson
- V Granberg
- V Spallone
- V Spallone
- VR Drel
- VR Drel
- W Rathmann
- WR Kennedy
- X Du
- X Navarro
- Y Ohkubo
- Y Wei
- ZY Fang
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full textEthnobotanical Profiles and Phytochemical Constituents of Barringtonia racemosa L. for Potential Scrutiny of Bioactive Compounds through Plant Biotechnology
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- Adewunmi CO Aladesanmi AJ, Adewoyin FB, Ojewole JAO, Naido N.
- Ahmad R Abdullah N.
- Aijaz A Jain S, Hariharan AG.
- Amran N Rani ANA, Mahmud R, Khoo BY.
- Anantaraman R Pillai KSM.
- Asouti E Fuller DQ.
- Behbahani M Ali AM, Muse R.
- Behbahani M Shanehsazzadeh M, Hessami MJ.
- Biswas M Roy DM, Rahman MM, Hossen M.
- Chander MP Kartick C, Vijayachari P.
- Chandran SMD Ramachandra TV, Joshi NV, Prakash M, Mesta PN, Settur B, Mukri VD.
- Chen YF, Yang CH, Chang MS, Ciou, YP, Huang YC.
- Dai J Mumper RJ.
- Dalila DZ Jaafar H, Manaf AA.
- Defilipps RA Maina SL, Pray LA.
- Dey A De JN.
- Dubois MAL Wagner H.
- Dufourc EJ.
- Etoh T.
- Govinden-Soulange J Boodia N, Dussooa C, Gunowa R, Deensah S, Facknath S, et al.
- Grassman J.
- Hasan CM. Khan S, Jabbar A, Rashid MA.
- Jayaprasad B Thamayandhi D, Sharavanan P.
- Jayaweera DMA.
- Kabera JN Semana E, Mussa AR, He X.
- Kabir T Saha S.
- Kaume RN.
- Kitalong AN Balick MJ, Rehuher F, Besebes M, Hanser S, Soaladaob K et al.
- Koh HL Chua TK, Tan CH.
- Kong KW Sarni MJ, Ismail A, Aminudin N, Abdul-Aziz A.
- Kritzon C.
- Lahiri JK Ghosh S.
- Lin YT Lo TB, Su SC.
- Mainasara MM Aliero BL, Aliero AA, Yakubu M.
- Makkar HPS Siddhuraju P, Becker K.
- Mollik MAH Hossan MS, Paul AK, Taufiq-Ur-Rahman M, Jahan R, Rahmatullah M.
- Moscatiello R Baldan B, Navazio L.
- Musman M.
- Neamsuvan O Sengnon N, Seemaphrik N, Chouychoo M, Rungrat R, Bunrasri S.
- Neuwinger HD.
- Nicholson G.
- Nurul-Mariam H Radzali M, Johari R, Syahida A, Maziah M.
- Ojewole JAO Nirasha ON, Adewunmi CO.
- Ong HC Nordiana M.
- Orwa C Mutua A, Kindt R, Jamnadass R, Simons A.
- Osman NI Norrizah JS, Awal A.
- Osman NI Norrizah JS, Awal A.
- Patil KR Patil CR, Jadhav RB, MahajanVK, Patil PR, Gaikwad PS.
- Piironen V, Lindsay DG, Miettinen TA, Toivo J, Lampi A-M.
- Powling A.
- Quattrocchi U.
- Rahmatullah M Hasan MM, Ahmed M, Khan MW, Hossan MS, Rahman MM, Nasrin D, Miajee ZUMEU, Hossain MS, Jahan R, Khatun MAA.
- Razafindraibe M Kuhlman AR, Rabarison H, Rokotoarimanana V. Rajeriarison C, Rakotoarivelo N, et al.
- Rukayah A.
- Sakurada T Mizoguchi H, Katsuyama S, Komatsu T, Kuwahata H, RombolĂ L, et al.
- Sarkar A.
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- Sun HY Long LJ, Wu J.
- Tanaka O Tamura Y, Masuda H, Mizutani K.
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- Thomas T Panikkar JB, Subramoniam A, Krishnan NM, Panikkar KR.
- Usher G.
- Vannini C Campa M, Sassi F, Bracale M.
- Wang K Senthil-Kumar M, Ryu CM, Kang L, Mysore KS.
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- Yang Y Deng Z, Proksch P, Lin W.
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- Publication venue
- 'Informatics Publishing Limited'
- Publication date
- Field of study
No full text
