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

Chromosomal Microarray Analysis in Pregnancies With Corpus Callosum or Posterior Fossa Anomalies

胼胝体或后颅窝异常妊娠的染色体微阵列分析

Lior Greenbaum ,Idit Maya ,Lena Sagi-Dain ,Rivka Sukenik-Halevy ,Michal Berkenstadt ,Hagith Yonath ,Shlomit Rienstein ,Adel Shalata ,Eldad Katorza ,Amihood Singer

Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome

新的 FREM1 突变扩大了与马尼托巴眼毛肛门 (MOTA) 综合征和双鼻肾发育不全肛门直肠畸形 (BNAR) 综合征相关的表型谱

Jared Nathanson, Daniel T Swarr, Amihood Singer, Mochi Liu, Amy Chinn, Wendy Jones, Jane Hurst, Nahla Khalek, Elaine Zackai, Anne Slavotinek