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

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation

鉴定并表征了两种新的JARID1C突变:提示一种新兴的基因型-表型相关性

Rujirabanjerd, Sinitdhorn; Nelson, John; Tarpey, Patrick S; Hackett, Anna; Edkins, Sarah; Raymond, F Lucy; Schwartz, Charles E; Turner, Gillian; Iwase, Shigeki; Shi, Yang; Futreal, P Andrew; Stratton, Michael R; Gecz, Jozef

A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C

智力低下男性患者的独特基因表达指纹反映了组蛋白去甲基化酶 KDM5C 的致病缺陷

Lars R Jensen, Heinz Bartenschlager, Sinitdhorn Rujirabanjerd, Andreas Tzschach, Astrid Nümann, Andreas R Janecke, Ralf Spörle, Sigmar Stricker, Martine Raynaud, John Nelson, Anna Hackett, Jean-Pierre Fryns, Jamel Chelly, Arjan Pm de Brouwer, Ben Hamel, Jozef Gecz, Hans-Hilger Ropers, Andreas W Kuss