日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency

人类 m6A 阅读器 YTHDC2 中的致病变异与原发性卵巢功能不全有关

Sinéad M McGlacken-Byrne, Ignacio Del Valle, Polona Le Quesne Stabej, Laura Bellutti, Luz Garcia-Alonso, Louise A Ocaka, Miho Ishida, Jenifer P Suntharalingham, Andrey Gagunashvili, Olumide K Ogunbiyi, Talisa Mistry, Federica Buonocore; GOSgene; Berta Crespo, Nadjeda Moreno, Paola Niola, Tony Brooks

A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia

隐性 PRDM13 突变导致先天性促性腺激素功能低下症和小脑发育不全

Danielle E Whittaker, Roberto Oleari, Louise C Gregory, Polona Le Quesne-Stabej, Hywel J Williams; GOSgene; John G Torpiano, Nancy Formosa, Mario J Cachia, Daniel Field, Antonella Lettieri, Louise A Ocaka, Alyssa Jj Paganoni, Sakina H Rajabali, Kimberley Lh Riegman, Lisa B De Martini, Taro Chaya, Ia

Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation

EIF2S3 功能受损与伴有葡萄糖失调的 X 连锁垂体功能减退症新表型相关

Louise C Gregory, Carolina B Ferreira, Sara K Young-Baird, Hywel J Williams, Magdalena Harakalova, Gijs van Haaften, Sofia A Rahman, Carles Gaston-Massuet, Daniel Kelberman, GOSgene, Waseem Qasim, Sally A Camper, Thomas E Dever, Pratik Shah, Iain C A F Robinson, Mehul T Dattani