Výsledky vyhledávání - "Liz YP. Yuen"

eP410: De novo missense variants in DDX39B cause a novel syndrome characterized by neurodevelopmental delay, short stature and congenital hypotonia

Autor: Kayla Treat, Sharayu Jangam, Shinya Yamamoto, Kerry White, Oguz Kanca, Celanie Christensen, Sally Lynch, Julia Baptista, Mandy HY. Tsang, Kristy Jay, Brian HY. Chung, Liz YP. Yuen, Martin MC. Chui, Hugo Bellen, Michael Wangler, Erin Conboy, Francesco Vetrini

Publikováno v: Genetics in Medicine. 24:S257-S258

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::03addd0f780bb24478761ab29f537bb9
https://doi.org/10.1016/j.gim.2022.01.445

Zobrazit plný text záznamu