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

De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder

RSF1基因的新生杂合变异是导致综合征性神经发育障碍的原因。

Jost, Céline; Busa, Tiffany; Wegner, Daniel; Shinawi, Marwan; Schaefer, Elise; Piton, Amélie; Schluth-Bolard, Caroline; Charles, Perrine; Keren, Boris; Mayerhanser, Katharina; Brunet, Theresa; Schatz, Ulrich; Neil, Jennifer E; Walsh, Christopher A; Sisco, Kathleen; J Paul, Alexander; Lee, Chung; Dykzeul, Natalie; Bonner, Devon; Bernstein, Jonathan A; Sutcliffe, Erin; Wentzensen, Ingrid M; Froehlich, Catherine; Liebler, Kaleigh; Galvin Parton, Patricia; Weiss-Burns, Jody; Sagnol, Chloé; Delanne, Julian; Racine, Caroline; Thauvin-Robinet, Christel; Safraou, Hana; Tran Mau-Them, Frédéric; Duffourd, Yannis; Bruel, Ange-Line; Faivre, Laurence

Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.

丙氨酰-tRNA合成酶活性不足是导致进行性小头畸形、髓鞘形成不足和癫痫性脑病的常染色体隐性遗传综合征的根本原因

Nakayama Tojo, Wu Jiang, Galvin-Parton Patricia, Weiss Jody, Andriola Mary R, Hill R Sean, Vaughan Dylan J, El-Quessny Malak, Barry Brenda J, Partlow Jennifer N, Barkovich A James, Ling Jiqiang, Mochida Ganeshwaran H

Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene

HLXB9 Currarino综合征基因的突变分析和胚胎表达

Hagan, D M; Ross, A J; Strachan, T; Lynch, S A; Ruiz-Perez, V; Wang, Y M; Scambler, P; Custard, E; Reardon, W; Hassan, S; Nixon, P; Papapetrou, C; Winter, R M; Edwards, Y; Morrison, K; Barrow, M; Cordier-Alex, M P; Correia, P; Galvin-Parton, P A; Gaskill, S; Gaskin, K J; Garcia-Minaur, S; Gereige, R; Hayward, R; Homfray, T