7 research outputs found
Treatment of infantile spasms in tuberous sclerosis complex: dismal outcomes but future hope?
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Vigabatrin
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2010
- Field of study
Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing
- Author
- A Apak
- A McKenna
- Aaron R. Thorner
- AC Jones
- AC Jones
- Bruce R. Korf
- CC Hung
- D Jeganathan
- Darcy Krueger
- David J. Kwiatkowski
- David N. Franz
- DG Evans
- DG Evans
- DJ Kwiatkowski
- Elizabeth A. Thiele
- European Chromosome
- GR Abecasis
- H Li
- H Li
- H Northrup
- IA Adzhubei
- IA Adzhubei
- J Kwiatkowska
- JE Choi
- Jennifer Glass
- JM Young
- JR Sampson
- JR Sampson
- JR Sampson
- JR Yates
- JT Robinson
- K King
- K Mayer
- K Mayer
- Kira A. Dies
- KS Au
- L Kluwe
- Ling Lin
- M Ali
- M Harland
- M Hutton
- M Nellist
- M van Slegtenhorst
- M van Slegtenhorst
- Magdalena E. Tyburczy
- ME Tyburczy
- ME Tyburczy
- Mustafa Sahin
- N Langkau
- ND Rendtorff
- O Sancak
- P Emmerson
- P Kozlowski
- P Kumar
- PB Crino
- PC Ng
- PS Roberts
- S Au K-
- S Boronat
- S Verhoef
- S Verhoef
- SE Camposano
- SL Dabora
- Susana Camposano
- VM Rose
- W Qin
- Y Niida
- Y Yamashita
- Yvonne Chekaluk
- Publication venue
- 'Public Library of Science (PLoS)'
- Publication date
- Field of study
Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations
- Author
- A McKenna
- A Quintana
- Alan Mrsic
- AMW Ouweland van den
- Anna E Koopmans
- Anneke JA Maat-Kievit
- Annelies de Klein
- Ans van den Ouweland
- Caroline Withagen-Hermans
- CC Dibble
- Christel EM Kockx
- DI Boomsma
- Dicky Halley
- DN Franz
- E Roach
- EC Berglund
- European Polycystic Kidney Disease Consortium
- Floor E Jansen
- H Li
- H Li
- H Northrup
- HC Mefford
- L Xu
- Lida Prins-Bakker
- M Ali
- M Laplante
- Marianne Hoogeveen-Westerveld
- Marie-Claire de Wit
- Mark Nellist
- Mike MP van den Berg
- ML Metzker
- Monique van Veghel-Plandsoen
- O Sancak
- PT Brook-Carter
- Rutger WW Brouwer
- SE Camposano
- W Qin
- Wilfred FJ van IJcken
- Y Niida
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Multiple Cystic Lung Diseases
- Author
- A Fabre
- A Katta
- A Maffe
- A Stefani
- A Tazi
- A Vourtsi
- A Woywodt
- AC Zamora
- AK Attili
- AM Taveira-DaSilva
- AR Birt
- AW Rebhan
- B Zbar
- BA Frohlich
- BG Baldi
- CA Meyer
- CG Przybycin
- CL Lu
- CM Shanti
- CM Wollschlager
- CS Ng
- D Bessis
- D Clements
- D Seibert
- DA Muzykewicz
- DE Dines
- DG Parr
- DM Hansell
- DM Seaman
- DN Franz
- DR Hay
- DS Ayo
- E Ceruti
- E Hardak
- E Kikuchi
- EJ Stern
- EL Shiau
- F Brehmer
- FH Menko
- G Michels
- GH Santos
- GY Lim
- H Donabedian
- H Sakurai
- HI Meyers
- HJ Kim
- HJ Williams
- HZ Ren
- I Ito
- ID Wexler
- IL Soldatski
- J Civatte
- J Verine
- J Yu
- JB Hoag
- JF Cordier
- JH Ryu
- JH Woodring
- JJ Collins Jr
- JM Diamond
- JN Painter
- JR Toro
- JR Toro
- JR Toro
- JS Roth
- JT Hagaman
- JT Stocker
- JT Turner
- JY Chung
- K Aboualfa
- K Kahnoski
- K Tobino
- K Tobino
- K Tobino
- KJ Butnor
- KK Somasekharan Nair
- KS Kim
- L Aggunlu
- L Zawadzka-Glos
- LA Grant
- LM Gijezen
- LS Schmidt
- M Akira
- M Alifano
- M Colombat
- M Colombat
- M Colombat
- M Colombat
- M Furuya
- M Furuya
- M Hayashi
- M Kambouchner
- M Koyama
- M Koyama
- M Kunogi
- M Mechri
- M Sakai
- M Watanabe
- MC Aubry
- ME Adriaensen
- MM Cohen Jr
- N Gupta
- N Kluger
- N Songur
- N Yanagawa
- NA Avila
- NM Lindor
- O Binet
- OP Hornstein
- P Curatolo
- PE Steiner
- PL Choyke
- PM Kasi
- PP Agarwal
- R Burnier
- R Egashira
- R Happle
- R Lazor
- R Okabe
- RA Murray
- RB Wagner
- RC Shamberger
- RE Randall
- S Aryal
- S Harari
- S Hasegawa
- S Koga
- S Lantuejoul
- S Noguchi
- S Ohdama
- S Rajagopala
- S Sundaram
- S Tomassetti
- S Umeoka
- SA Papiris
- SE Camposano
- SJ Copley
- SK Khoo
- SK Rakowski
- SM Holland
- SR Johnson
- SR Johnson
- SR Johnson
- SW Kao
- SY Choi
- SY Ruan
- T Franquet
- T Johkoh
- T Kashiwada
- T Kumasaka
- T May
- T Sato
- T Traweek
- TC Yang
- TE Hartman
- TE Muir
- V Cottin
- VJ Tyrrell
- Y Gunji
- Y Kobashi
- YJ Jeong
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2015
- Field of study
Recent Advances in the Pharmacotherapy of Infantile Spasms
- Author
- A Berg
- A Catania
- A Dracopoulos
- A Galanopoulou
- A Grossman
- A Hong
- A Lux
- A Lux
- A Lux
- A Paciorkowski
- A Partikian
- B Mohamed
- B Treadwell
- B Zhang
- C Chiron
- C Fong
- C Go
- C Stafstrom
- C Stafstrom
- CT Lombroso
- D Dunin-Wasowitcz
- D Shulman
- E Gaily
- E Gaily
- E Haberlandt
- E Hancock
- E Kossoff
- E Raffo
- F Dreifuss
- F Dreifuss
- F Jammoul
- F Jammoul
- F O’Callaghan
- G Sapolsky
- G Wohlrab
- G Wohlrab
- H Heiskala
- I Nousiainen
- J Bitton
- J Gettig
- J Kerrigan
- J Pellock
- J Perheentupa
- J Pietz
- J Tsai
- J Yu
- JR Mytinger
- JW Wheless
- K Benedek
- K Darke
- K Kotulska
- L Axelrod
- L Lagae
- L Sorel
- L Willmore
- L Zeng
- L Zou
- LP Zou
- M Azam
- M Marguire
- M Mikati
- M Rogawski
- M-L Granström
- MT Mackay
- O Debus
- P Bittigau
- P Crino
- P Kinironis
- P Marik
- P Singhi
- P Veggiotti
- P Vigevano
- PL Pearl
- R Appleton
- R Askalan
- R Elterman
- R Hrachovy
- R Korinthenberg
- R Riikonen
- R Riikonen
- R Riikonen
- R Riikonen
- R Riikonen
- R Riikonen
- R Riikonen
- R Riikonen
- R Riikonen
- R Riikonen
- R Riikonen
- Raili Riikonen
- RD Elterman
- S Cohen-Sadan
- S Jozwiack
- S Kivity
- S Stockler
- S Yanagaki
- S Yanagaki
- S Yanai
- SE Camposano
- T Baram
- T Glauser
- T Glauser
- Vigabatrin Pediatric Advisory Group
- Y Fukuyama
- Y Izumi
- Y Ohtsuka
- Y Suzuki
- Z Primec
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Multiple Cystic Lung Diseases
- Author
- A Fabre
- A Katta
- A Maffe
- A Stefani
- A Tazi
- A Vourtsi
- A Woywodt
- AC Zamora
- AK Attili
- AM Taveira-DaSilva
- AR Birt
- AW Rebhan
- B Zbar
- BA Frohlich
- BG Baldi
- CA Meyer
- CG Przybycin
- CL Lu
- CM Shanti
- CM Wollschlager
- CS Ng
- D Bessis
- D Clements
- D Seibert
- DA Muzykewicz
- DE Dines
- DG Parr
- DM Hansell
- DM Seaman
- DN Franz
- DR Hay
- DS Ayo
- E Ceruti
- E Hardak
- E Kikuchi
- EJ Stern
- EL Shiau
- F Brehmer
- FH Menko
- G Michels
- GH Santos
- GY Lim
- H Donabedian
- H Sakurai
- HI Meyers
- HJ Kim
- HJ Williams
- HZ Ren
- I Ito
- ID Wexler
- IL Soldatski
- J Civatte
- J Verine
- J Yu
- JB Hoag
- JF Cordier
- JH Ryu
- JH Woodring
- JJ Collins Jr
- JM Diamond
- JN Painter
- JR Toro
- JR Toro
- JR Toro
- JS Roth
- JT Hagaman
- JT Stocker
- JT Turner
- JY Chung
- K Aboualfa
- K Kahnoski
- K Tobino
- K Tobino
- K Tobino
- KJ Butnor
- KK Somasekharan Nair
- KS Kim
- L Aggunlu
- L Zawadzka-Glos
- LA Grant
- LM Gijezen
- LS Schmidt
- M Akira
- M Alifano
- M Colombat
- M Colombat
- M Colombat
- M Colombat
- M Furuya
- M Furuya
- M Hayashi
- M Kambouchner
- M Koyama
- M Koyama
- M Kunogi
- M Mechri
- M Sakai
- M Watanabe
- MC Aubry
- ME Adriaensen
- MM Cohen Jr
- N Gupta
- N Kluger
- N Songur
- N Yanagawa
- NA Avila
- NM Lindor
- O Binet
- OP Hornstein
- P Curatolo
- PE Steiner
- PL Choyke
- PM Kasi
- PP Agarwal
- R Burnier
- R Egashira
- R Happle
- R Lazor
- R Okabe
- RA Murray
- RB Wagner
- RC Shamberger
- RE Randall
- S Aryal
- S Harari
- S Hasegawa
- S Koga
- S Lantuejoul
- S Noguchi
- S Ohdama
- S Rajagopala
- S Sundaram
- S Tomassetti
- S Umeoka
- SA Papiris
- SE Camposano
- SJ Copley
- SK Khoo
- SK Rakowski
- SM Holland
- SR Johnson
- SR Johnson
- SR Johnson
- SW Kao
- SY Choi
- SY Ruan
- T Franquet
- T Johkoh
- T Kashiwada
- T Kumasaka
- T May
- T Sato
- T Traweek
- TC Yang
- TE Hartman
- TE Muir
- V Cottin
- VJ Tyrrell
- Y Gunji
- Y Kobashi
- YJ Jeong
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study