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

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

最初的卢扬综合征家族在MED12基因中发现了一种新的错义突变(p.N1007S)。

Schwartz, Charles E; Tarpey, Patrick S; Lubs, Herbert A; Verloes, Alain; May, Melanie M; Risheg, Hiba; Friez, Michael J; Futreal, P Andrew; Edkins, Sarah; Teague, Jon; Briault, Sylvain; Skinner, Cindy; Bauer-Carlin, Astrid; Simensen, Richard J; Joseph, Sumy M; Jones, Julie R; Gecz, Josef; Stratton, Michael R; Raymond, F Lucy; Stevenson, Roger E

Craniofacioskeletal syndrome: an X-linked dominant disorder with early lethality in males

颅面骨骼综合征:一种X连锁显性遗传疾病,男性患者早期死亡

Stevenson, Roger E; Brasington, Cam K; Skinner, Cindy; Simensen, Richard J; Spence, J Edward; Kesler, Shelli; Reiss, Allan L; Schwartz, Charles E

Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome

RSK2基因突变相关的神经发育异常:Coffin-Lowry综合征的形态计量学MRI研究

Kesler, Shelli R; Simensen, Richard J; Voeller, Kytja; Abidi, Fatima; Stevenson, Roger E; Schwartz, Charles E; Reiss, Allan L

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation.

编码衔接蛋白 1 复合物 Sigma 2 亚基的基因 AP1S2 发生突变,会导致 X 连锁智力低下

Tarpey Patrick S, Stevens Claire, Teague Jon, Edkins Sarah, O'Meara Sarah, Avis Tim, Barthorpe Syd, Buck Gemma, Butler Adam, Cole Jennifer, Dicks Ed, Gray Kristian, Halliday Kelly, Harrison Rachel, Hills Katy, Hinton Jonathon, Jones David, Menzies Andrew, Mironenko Tatiana, Perry Janet, Raine Keiran, Richardson David, Shepherd Rebecca, Small Alexandra, Tofts Calli, Varian Jennifer, West Sofie, Widaa Sara, Yates Andy, Catford Rachael, Butler Julia, Mallya Uma, Moon Jenny, Luo Ying, Dorkins Huw, Thompson Deborah, Easton Douglas F, Wooster Richard, Bobrow Martin, Carpenter Nancy, Simensen Richard J, Schwartz Charles E, Stevenson Roger E, Turner Gillian, Partington Michael, Gecz Jozef, Stratton Michael R, Futreal P Andrew, Raymond F Lucy