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

Clinical phenotypes among patients with familial forms of Chiari malformation type 1

家族性小脑扁桃体下疝畸形1型患者的临床表型

Mekbib, Kedous Y; Muñoz, William; Allington, Garrett; Zhao, Shujuan; Mehta, Neel H; Fortes, Carla; Shohfi, John P; Fan, Baojian; Nelson-Williams, Carol; DeSpenza, Tyrone; Butler, William E; Alper, Seth L; Jackson, Eric M; Kahle, Kristopher T

TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.

TRIM71 基因突变会导致以脑室扩大和脑积水为特征的神经发育综合征

Duy Phan Q, Jux Bettina, Zhao Shujuan, Mekbib Kedous Y, Dennis Evan, Dong Weilai, Nelson-Williams Carol, Mehta Neel H, Shohfi John P, Juusola Jane, Allington Garrett, Smith Hannah, Marlin Sandrine, Belhous Kahina, Monteleone Berrin, Schaefer G Bradley, Pisarska Margareta D, Vásquez Jaime, Estrada-Veras Juvianee I, Keren Boris, Mignot Cyril, Flore Leigh A, Palafoll Irene V, Alper Seth L, Lifton Richard P, Haider Shozeb, Moreno-De-Luca Andres, Jin Sheng Chih, Kolanus Waldemar, Kahle Kristopher T

A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.

一种新型的SMARCC1 BAF病与人类脑积水相关的神经祖细胞表观遗传失调有关

Singh Amrita K, Allington Garrett, Viviano Stephen, McGee Stephen, Kiziltug Emre, Ma Shaojie, Zhao Shujuan, Mekbib Kedous Y, Shohfi John P, Duy Phan Q, DeSpenza Tyrone Jr, Furey Charuta G, Reeves Benjamin C, Smith Hannah, Sousa André M M, Cherskov Adriana, Allocco August, Nelson-Williams Carol, Haider Shozeb, Rizvi Syed R A, Alper Seth L, Sestan Nenad, Shimelis Hermela, Walsh Lauren K, Lifton Richard P, Moreno-De-Luca Andres, Jin Sheng Chih, Kruszka Paul, Deniz Engin, Kahle Kristopher T