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

The Genetic Landscape of Inherited Retinal Diseases in the Israeli Population

以色列人群遗传性视网膜疾病的遗传图谱

Shalom, Sapir; Gradstein, Libe; Pras, Eran; Valensi, Johanna; Birk, Ohad S; Blumenfeld, Anat; Eilat, Avital; Macarov, Michal; Poleg, Tomer; Cremers, Frans P M; Roosing, Susanne; Panneman, Daan M; Hollander, Nadin; Goldenberg-Cohen, Nitza; Yahalom, Claudia; Banin, Eyal; Ben-Yosef, Tamar; Sharon, Dror

The importance of genetic counselling and testing in inherited eye diseases: A population-based retrospective study

遗传咨询和检测在遗传性眼病中的重要性:一项基于人群的回顾性研究

Kaminer Abargel, Michal; Macarov, Michal; Hendler, Karen; Yahalom, Claudia

Genetics of bilateral pediatric cataract in the Israeli and Palestinian populations

以色列和巴勒斯坦人群双侧儿童白内障的遗传学研究

Yahalom, Claudia; Anteby, Irene; Hendler, Karen; Harel, Tamar; Eilat, Avital; Macarov, Michal

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

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

MYO15A基因的一个同义变异在德系犹太人群体中富集,由于异常剪接导致常染色体隐性遗传性听力损失。

Hirsch, Yoel; Tangshewinsirikul, Chayada; Booth, Kevin T; Azaiez, Hela; Yefet, Devorah; Quint, Adina; Weiden, Tzvi; Brownstein, Zippora; Macarov, Michal; Davidov, Bella; Pappas, John; Rabin, Rachel; Kenna, Margaret A; Oza, Andrea M; Lafferty, Katherine; Amr, Sami S; Rehm, Heidi L; Kolbe, Diana L; Frees, Kathy; Nishimura, Carla; Luo, Minjie; Farra, Chantal; Morton, Cynthia C; Scher, Sholem Y; Ekstein, Josef; Avraham, Karen B; Smith, Richard J H; Shen, Jun

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1

以色列犹太人群中遗传性听力损失的基因谱,包括新型人类耳聋基因 ATOH1

Brownstein, Zippora; Gulsuner, Suleyman; Walsh, Tom; Martins, Fábio T A; Taiber, Shahar; Isakov, Ofer; Lee, Ming K; Bordeynik-Cohen, Mor; Birkan, Maria; Chang, Weise; Casadei, Silvia; Danial-Farran, Nada; Abu-Rayyan, Amal; Carlson, Ryan; Kamal, Lara; Arnthórsson, Asgeir Ö; Sokolov, Meirav; Gilony, Dror; Lipschitz, Noga; Frydman, Moshe; Davidov, Bella; Macarov, Michal; Sagi, Michal; Vinkler, Chana; Poran, Hana; Sharony, Reuven; Samra, Nadra; Zvi, Na'ama; Baris-Feldman, Hagit; Singer, Amihood; Handzel, Ophir; Hertzano, Ronna; Ali-Naffaa, Doaa; Ruhrman-Shahar, Noa; Madgar, Ory; Sofrin-Drucker, Efrat; Peleg, Amir; Khayat, Morad; Shohat, Mordechai; Basel-Salmon, Lina; Pras, Elon; Lev, Dorit; Wolf, Michael; Steingrimsson, Eirikur; Shomron, Noam; Kelley, Matthew W; Kanaan, Moien N; Allon-Shalev, Stavit; King, Mary-Claire; Avraham, Karen B