Showing 1–11 of 11 results
-
Research |
-
Research |
-
Research |
-
Research |
-
Research |
-
Research |
-
-
-
Research | | Open
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
- Holger Hengel
- , Célia Bosso-Lefèvre
- , George Grady
- , Emmanuelle Szenker-Ravi
- , Hankun Li
- , Sarah Pierce
- , Élise Lebigot
- , Thong-Teck Tan
- , Michelle Y. Eio
- , Gunaseelan Narayanan
- , Kagistia Hana Utami
- , Monica Yau
- , Nader Handal
- , Werner Deigendesch
- , Reinhard Keimer
- , Hiyam M. Marzouqa
- , Meral Gunay-Aygun
- , Michael J. Muriello
- , Helene Verhelst
- , Sarah Weckhuysen
- , Sonal Mahida
- , Sakkubai Naidu
- , Terrence G. Thomas
- , Jiin Ying Lim
- , Ee Shien Tan
- , Damien Haye
- , Michèl A. A. P. Willemsen
- , Renske Oegema
- , Wendy G. Mitchell
- , Tyler Mark Pierson
- , Marisa V. Andrews
- , Marcia C. Willing
- , Lance H. Rodan
- , Tahsin Stefan Barakat
- , Marjon van Slegtenhorst
- , Ralitza H. Gavrilova
- , Diego Martinelli
- , Tal Gilboa
- , Abdullah M. Tamim
- , Mais O. Hashem
- , Moeenaldeen D. AlSayed
- , Maha M. Abdulrahim
- , Mohammed Al-Owain
- , Ali Awaji
- , Adel A. H. Mahmoud
- , Eissa A. Faqeih
- , Ali Al Asmari
- , Sulwan M. Algain
- , Lamyaa A. Jad
- , Hesham M. Aldhalaan
- , Ingo Helbig
- , David A. Koolen
- , Angelika Riess
- , Ingeborg Kraegeloh-Mann
- , Peter Bauer
- , Suleyman Gulsuner
- , Hannah Stamberger
- , Alvin Yu Jin Ng
- , Sha Tang
- , Sumanty Tohari
- , Boris Keren
- , Laura E. Schultz-Rogers
- , Eric W. Klee
- , Sabina Barresi
- , Marco Tartaglia
- , Hagar Mor-Shaked
- , Sateesh Maddirevula
- , Amber Begtrup
- , Aida Telegrafi
- , Rolph Pfundt
- , Rebecca Schüle
- , Brian Ciruna
- , Carine Bonnard
- , Mahmoud A. Pouladi
- , James C. Stewart
- , Adam Claridge-Chang
- , Dirk J. Lefeber
- , Fowzan S. Alkuraya
- , Ajay S. Mathuru
- , Byrappa Venkatesh
- , Joseph J. Barycki
- , Melanie A. Simpson
- , Saumya S. Jamuar
- , Ludger Schöls
- & Bruno Reversade
-
Research |
-
Research |
