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1 Ergebnisse
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Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase c..:
Hengel, Holger
;
Bosso-Lefèvre, Célia
;
Grady, George
...
qt5f80k46t. , 2020
Link:
https://escholarship.org/uc/item/5f80k46t
RT Journal T1
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt5f80k46t&Exemplar=1&LAN=DE A1 Hengel, Holger A1 Bosso-Lefèvre, Célia A1 Grady, George A1 Szenker-Ravi, Emmanuelle A1 Li, Hankun A1 Pierce, Sarah A1 Lebigot, Élise A1 Tan, Thong-Teck A1 Eio, Michelle Y A1 Narayanan, Gunaseelan A1 Utami, Kagistia Hana A1 Yau, Monica A1 Handal, Nader A1 Deigendesch, Werner A1 Keimer, Reinhard A1 Marzouqa, Hiyam M A1 Gunay-Aygun, Meral A1 Muriello, Michael J A1 Verhelst, Helene A1 Weckhuysen, Sarah A1 Mahida, Sonal A1 Naidu, Sakkubai A1 Thomas, Terrence G A1 Lim, Jiin Ying A1 Tan, Ee Shien A1 Haye, Damien A1 Willemsen, Michèl AAP A1 Oegema, Renske A1 Mitchell, Wendy G A1 Pierson, Tyler Mark A1 Andrews, Marisa V A1 Willing, Marcia C A1 Rodan, Lance H A1 Barakat, Tahsin Stefan A1 van Slegtenhorst, Marjon A1 Gavrilova, Ralitza H A1 Martinelli, Diego A1 Gilboa, Tal A1 Tamim, Abdullah M A1 Hashem, Mais O A1 AlSayed, Moeenaldeen D A1 Abdulrahim, Maha M A1 Al-Owain, Mohammed A1 Awaji, Ali A1 Mahmoud, Adel AH A1 Faqeih, Eissa A A1 Asmari, Ali Al A1 Algain, Sulwan M A1 Jad, Lamyaa A A1 Aldhalaan, Hesham M A1 Helbig, Ingo A1 Koolen, David A A1 Riess, Angelika A1 Kraegeloh-Mann, Ingeborg A1 Bauer, Peter A1 Gulsuner, Suleyman A1 Stamberger, Hannah A1 Ng, Alvin Yu Jin A1 Tang, Sha A1 Tohari, Sumanty A1 Keren, Boris A1 Schultz-Rogers, Laura E A1 Klee, Eric W A1 Barresi, Sabina A1 Tartaglia, Marco A1 Mor-Shaked, Hagar A1 Maddirevula, Sateesh A1 Begtrup, Amber A1 Telegrafi, Aida A1 Pfundt, Rolph A1 Schüle, Rebecca A1 Ciruna, Brian A1 Bonnard, Carine A1 Pouladi, Mahmoud A A1 Stewart, James C A1 Claridge-Chang, Adam A1 Lefeber, Dirk J A1 Alkuraya, Fowzan S A1 Mathuru, Ajay S A1 Venkatesh, Byrappa A1 Barycki, Joseph J A1 Simpson, Melanie A A1 Jamuar, Saumya S A1 Schöls, Ludger A1 Reversade, Bruno PB eScholarship, University of California YR 2020 K1 Biological Sciences K1 Biomedical and Clinical Sciences K1 Genetics K1 Brain Disorders K1 Neurosciences K1 Neurodegenerative K1 Epilepsy K1 Intellectual and Developmental Disabilities (IDD) K1 Aetiology K1 2.1 Biological and endogenous factors K1 Neurological K1 Adolescent K1 Alleles K1 Animals K1 Child K1 Preschool K1 Female K1 Genes K1 Recessive K1 Humans K1 Infant K1 Kinetics K1 Loss of Function Mutation K1 Male K1 Organoids K1 Oxidoreductases K1 Pedigree K1 Protein Domains K1 Syndrome K1 Uridine Diphosphate Glucose Dehydrogenase K1 Zebrafish JF qt5f80k46t LK http://dx.doi.org/https://escholarship.org/uc/item/5f80k46t DO https://escholarship.org/uc/item/5f80k46t SF ELIB - SuUB Bremen
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