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1 Ergebnisse
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P588: De novo and inherited variants in DDX39B cause a nove..:
Booth, Kevin
;
Jangam, Sharayu
;
Man Chun Chui, Martin
...
Genetics in Medicine Open. 2 (2024) - p. 101494 , 2024
Link:
https://doi.org/10.1016/j.gimo.2024.101494
RT Journal T1
P588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short stature
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.gimo.2024.101494&Exemplar=1&LAN=DE A1 Booth, Kevin A1 Jangam, Sharayu A1 Man Chun Chui, Martin A1 Treat, Kayla A1 Graziani, Lorenzo A1 Soldano, Alessia A1 White, Kerry A1 Christensen, Celanie A1 Lynnes, Ty A1 Yamamoto, Shinya A1 Kanca, Oguz A1 Tsang, Mandy A1 Lynch, Sally A1 Mullegama, Sureni A1 Baptista, Julia A1 Iancu, Daniela A1 Joss, Shelag A1 CY Mak, Christopher A1 Kwong, Anna A1 Bellen, Hugo A1 Conboy, Erin A1 Sanges, Remo A1 Wangler, Michael F. A1 Hon-Yin Chung, Brian A1 Vetrini, Francesco PB Elsevier BV YR 2024 SN 2949-7744 JF Genetics in Medicine Open VO 2 SP 101494 LK http://dx.doi.org/https://doi.org/10.1016/j.gimo.2024.101494 DO https://doi.org/10.1016/j.gimo.2024.101494 SF ELIB - SuUB Bremen
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