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

Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype

具有新型 MYLK 基因突变的大家族中发生致命性胸主动脉瘤和夹层:临床表型的描述

Adel Shalata, Mohammad Mahroom, Dianna M Milewicz, Gong Limin, Fadi Kassum, Khader Badarna, Nader Tarabeih, Nimmer Assy, Rona Fell, Hector Cohen, Munir Nashashibi, Alejandro Livoff, Muhammad Azab, George Habib, Dan Geiger, Omer Weissbrod, William Nseir

Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy

磷脂酶 A2 活化蛋白与一种新型白质脑病有关

Tzipora C Falik Zaccai, David Savitzki, Yifat Zivony-Elboum, Thierry Vilboux, Eric C Fitts, Yishay Shoval, Limor Kalfon, Nadra Samra, Zohar Keren, Bella Gross, Natalia Chasnyk, Rachel Straussberg, James C Mullikin, Jamie K Teer, Dan Geiger, Daniel Kornitzer, Ora Bitterman-Deutsch, Abraham O Samson, 

A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis

Vps37A 的创始突变导致常染色体隐性复杂遗传性痉挛性截瘫

Yifat Zivony-Elboum, Wendy Westbroek, Nehama Kfir, David Savitzki, Yishay Shoval, Assnat Bloom, Raya Rod, Morad Khayat, Bella Gross, Walid Samri, Hector Cohen, Vadim Sonkin, Tatiana Freidman, Dan Geiger, Aviva Fattal-Valevski, Yair Anikster, Aoife M Waters, Robert Kleta, Tzipora C Falik-Zaccai

Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis

RBM28(一种与核糖体生物合成相关的核仁蛋白)表达下降引起的脱发、神经系统缺陷和内分泌病综合征

Janna Nousbeck, Ronen Spiegel, Akemi Ishida-Yamamoto, Margarita Indelman, Ayelet Shani-Adir, Noam Adir, Ehud Lipkin, Sivan Bercovici, Dan Geiger, Maurice A van Steensel, Peter M Steijlen, Reuven Bergman, Albrecht Bindereif, Mordechai Choder, Stavit Shalev, Eli Sprecher

A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma

SNAP29 基因突变(编码参与细胞内运输的 SNARE 蛋白)可导致一种新型神经皮肤综合征,其特征为脑发育不良、神经病变、鱼鳞病和掌跖角化病

Eli Sprecher, Akemi Ishida-Yamamoto, Mordechai Mizrahi-Koren, Debora Rapaport, Dorit Goldsher, Margarita Indelman, Orit Topaz, Ilana Chefetz, Hanni Keren, Timothy J O'brien, Dani Bercovich, Stavit Shalev, Dan Geiger, Reuven Bergman, Mia Horowitz, Hanna Mandel