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

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1

由于PTDSS1基因的新发突变导致皮肤松弛和骨骼过度生长

Piard, Juliette; Lespinasse, James; Vlckova, Marketa; Mensah, Martin A; Iurian, Sorin; Simandlova, Martina; Malikova, Marcela; Bartsch, Oliver; Rossi, Massimiliano; Lenoir, Marion; Nugues, Frédérique; Mundlos, Stefan; Kornak, Uwe; Stanier, Philip; Sousa, Sérgio B; Van Maldergem, Lionel

Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23

三名患有14q22q23微缺失的儿童出现无眼症、听力丧失、垂体发育异常以及对生长激素治疗的反应

Brisset, Sophie; Slamova, Zuzana; Dusatkova, Petra; Briand-Suleau, Audrey; Milcent, Karen; Metay, Corinne; Simandlova, Martina; Sumnik, Zdenek; Tosca, Lucie; Goossens, Michel; Labrune, Philippe; Zemankova, Elsa; Lebl, Jan; Tachdjian, Gerard; Sedlacek, Zdenek

FBH1 helicase disrupts RAD51 filaments in vitro and modulates homologous recombination in mammalian cells

FBH1解旋酶在体外可破坏RAD51丝状结构,并调节哺乳动物细胞中的同源重组。

Simandlova, Jitka; Zagelbaum, Jennifer; Payne, Miranda J; Chu, Wai Kit; Shevelev, Igor; Hanada, Katsuhiro; Chatterjee, Sujoy; Reid, Dylan A; Liu, Ying; Janscak, Pavel; Rothenberg, Eli; Hickson, Ian D