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

Biallelic MED29 variants cause pontocerebellar hypoplasia with cataracts

MED29双等位基因变异导致脑桥小脑发育不全伴白内障

Arkush, Leo; van Woerden, Geeske M; Ziv, Limor; Marek-Yagel, Dina; Fonseca, Reginald; Brevé, Esmee; Barel, Ortal; Shalva, Nechama; Veber, Alvit; Anikster, Yair; Ben-Ami Raichman, Dominique; Musallam, Banan; Marcu, Shai; Nissenkorn, Andreea; Mandel, Hanna; Kushner, Steven A; Ben Zeev, Bruria; Heimer, Gali

Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene

由于 HPS3 基因新缺失导致的眼皮肤白化病和出血素质

Dina Marek-Yagel, Shachar Abudi-Sinreich, Michal Macarov, Alvit Veber, Nechama Shalva, Amit Mary Philosoph, Ben Pode-Shakked, May Christine V Malicdan, Yair Anikster

Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease

四例D-双功能蛋白(DBP)缺乏症患者:拓展这种高度变异性疾病的表型谱

Landau, Yuval E; Heimer, Gali; Barel, Ortal; Shalva, Nechama; Marek-Yagel, Dina; Veber, Alvit; Javasky, Elisheva; Shilon, Aya; Nissenkorn, Andreea; Ben-Zeev, Bruria; Anikster, Yair

Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation

由于 PIGM 启动子突变导致糖基磷脂酰肌醇缺乏症导致脑静脉和门静脉血栓形成、巨头畸形和非典型失神性癫痫

Ben Pode-Shakked, Gali Heimer, Thierry Vilboux, Dina Marek-Yagel, Bruria Ben-Zeev, Mariska Davids, Carlos R Ferreira, Amit Mary Philosoph, Alvit Veber, Naomi Pode-Shakked, Gili Kenet, Michalle Soudack, Chen Hoffmann, Helly Vernitsky, Marina Safaniev, Maya Lodzki, Avishay Lahad, Dror S Shouval, Dana

Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature

全外显子组测序揭示进行性假性风湿性骨发育不良:WISP3基因的新突变及文献综述

Pode-Shakked, Ben; Vivante, Asaf; Barel, Ortal; Padeh, Shai; Marek-Yagel, Dina; Veber, Alvit; Abudi, Shachar; Eliyahu, Aviva; Tirosh, Irit; Shpilman, Shiri; Shril, Shirlee; Hildebrandt, Friedhelm; Shohat, Mordechai; Anikster, Yair

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

MECR 突变导致儿童期肌张力障碍和视神经萎缩(一种线粒体脂肪酸合成障碍)

Gali Heimer, Juha M Kerätär, Lisa G Riley, Shanti Balasubramaniam, Eran Eyal, Laura P Pietikäinen, J Kalervo Hiltunen, Dina Marek-Yagel, Jeffrey Hamada, Allison Gregory, Caleb Rogers, Penelope Hogarth, Martha A Nance, Nechama Shalva, Alvit Veber, Michal Tzadok, Andreea Nissenkorn, Davide Tonduti, Fl