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eP410: De novo missense variants in DDX39B cause a novel sy..:
Treat, Kayla
;
Jangam, Sharayu
;
Yamamoto, Shinya
...
Genetics in Medicine. 24 (2022) 3 - p. S257-S258 , 2022
Link:
https://doi.org/10.1016/j.gim.2022.01.445
RT Journal T1
eP410: De novo missense variants in DDX39B cause a novel syndrome characterized by neurodevelopmental delay, short stature and congenital hypotonia
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.gim.2022.01.445&Exemplar=1&LAN=DE A1 Treat, Kayla A1 Jangam, Sharayu A1 Yamamoto, Shinya A1 White, Kerry A1 Kanca, Oguz A1 Christensen, Celanie A1 Lynch, Sally A1 Baptista, Julia A1 Tsang, Mandy HY. A1 Jay, Kristy A1 Chung, Brian HY. A1 Yuen, Liz YP. A1 Chui, Martin MC. A1 Bellen, Hugo A1 Wangler, Michael A1 Conboy, Erin A1 Vetrini, Francesco PB Elsevier BV YR 2022 SN 1098-3600 JF Genetics in Medicine VO 24 IS 3 SP S257 OP S258 LK http://dx.doi.org/https://doi.org/10.1016/j.gim.2022.01.445 DO https://doi.org/10.1016/j.gim.2022.01.445 SF ELIB - SuUB Bremen
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