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

A pathogenic variant of AMOT leads to isolated X-linked congenital hydrocephalus due to N-terminal truncation.

AMOT 的一种致病变异体由于 N 端截断而导致孤立性 X 连锁先天性脑积水

Hastar Nurcan, Daum Hagit, Kardos-Török Nikoletta, Ganz Gael, Obendorf Leon, Vajkoczy Peter, Elpeleg Orly, Knaus Petra

Clinical and genetic characteristics of carriers of the TP53 c.541C > T, p.Arg181Cys pathogenic variant causing hereditary cancer in patients of Arab-Muslim descent

携带TP53 c.541C > T, p.Arg181Cys致病变异(导致阿拉伯-穆斯林血统患者罹患遗传性癌症)的患者的临床和遗传特征

Arnon, Johnathan; Zick, Aviad; Maoz, Myriam; Salaymeh, Nada; Gugenheim, Ahinoam; Marouani, MazalTov; Mor, Eden; Hamburger, Tamar; Saadi, Nagam; Elia, Anna; Ganz, Gael; Fahham, Duha; Meirovitz, Amichay; Kadouri, Luna; Meiner, Vardiella; Yablonski-Peretz, Tamar; Shkedi-Rafid, Shiri