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

Broadening the Phenotypic Spectrum of MAFB-Related Disease: Renal, Auricular, Ocular, and Nervous System Involvement

扩大MAFB相关疾病的表型谱:肾脏、耳部、眼部和神经系统受累

Eliyahu, Aviva; Atias-Varon, Danit; Barel, Ortal; Khavkin, Yulia; Pras, Elon; Reznik-Wolf, Haike; Chorin, Odelia; Poleg, Tomer; Biller, Ari; Beckerman, Pazit; Abu-Amer, Nabil; Wygnanski-Jaffe, Tamara; Greenbaum, Lior; Vivante, Asaf; Krause, Irit

Evaluation of the digital genetic assistant in technology assisted genetic counseling for genetic carrier screening

对数字基因助手在基因携带者筛查技术辅助遗传咨询中的应用进行评估

Yaron, Yuval; Ofen Glassner, Vered; Berkenstadt, Michal; Goldstein, Nurit; Reznik Wolf, Haike; Ries Levavi, Liat; Abo Gutstein, Liat; Furman, Yael; Anouchi, Mori; Delmar, Galit; Behar, Doron M; Pras, Elon; Reches, Adi; Kurolap, Alina; Baris Feldman, Hagit

Multiethnic prevalence of the APOL1 G1 and G2 variants among the Israeli dialysis population.

以色列透析人群中 APOL1 G1 和 G2 变体的多民族患病率

Ben-Ruby Dror, Atias-Varon Danit, Kagan Maayan, Chowers Guy, Shlomovitz Omer, Slabodnik-Kaner Keren, Mano Neta, Avayou Shany, Atsmony Yariv, Levin Dana, Dotan Edo, Calderon-Margalit Ronit, Shnaider Alla, Haviv Yosef S, Birk Ohad S, Hadar Noam, Anikster Yair, Berar Yanay Noa, Chernin Gil, Kruzel-Davila Etty, Beckerman Pazit, Rozen-Zvi Benaya, Doctor Gabriel T, Stanescu Horia C, Shemer Revital, Pras Elon, Reznik-Wolf Haike, Nahum Ayelet Hashahar, Dominissini Dan, Skorecki Karl, Vivante Asaf

Hereditary Transthyretin Amyloidosis in Israel: Genetic Landscape and Clinical Characteristics

以色列遗传性转甲状腺素蛋白淀粉样变性:遗传图谱和临床特征

Dori, Amir; Chorin, Odelia; Ruhrman-Shahar, Noa; Fellner, Avi; Alon, Tayir; Reznik-Wolf, Haike; Barel, Ortal; Fourey, Dana; Zadok, Osnat Itzhaki Ben; Aviv, Yaron; Nikitin, Vera; Ben-David, Merav; Shavit-Stein, Efrat; Goldis, Rivka; Kaplan, Batia; Shapiro, Daniela; Pras, Elon; Pollak, Arthur; Meiner, Vardiella; Arad, Michael; Greenbaum, Lior

Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population

犹太伊朗人群中由 HSPB1 基因突变引起的神经病变的早期和晚期表现

Greenbaum, Lior; Ben-David, Merav; Nikitin, Vera; Gera, Orna; Barel, Ortal; Hersalis-Eldar, Adi; Shamash, Jana; Shimshoviz, Noam; Reznik-Wolf, Haike; Shohat, Mordechai; Dominissini, Dan; Pras, Elon; Dori, Amir

A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies

单中心利用公共资金进行临床外显子组测序以诊断神经发育障碍或多发性先天性异常的经验

Pode-Shakked, Ben; Barel, Ortal; Singer, Amihood; Regev, Miriam; Poran, Hana; Eliyahu, Aviva; Finezilber, Yael; Segev, Meirav; Berkenstadt, Michal; Yonath, Hagith; Reznik-Wolf, Haike; Gazit, Yael; Chorin, Odelia; Heimer, Gali; Gabis, Lidia V; Tzadok, Michal; Nissenkorn, Andreea; Bar-Yosef, Omer; Zohar-Dayan, Efrat; Ben-Zeev, Bruria; Mor, Nofar; Kol, Nitzan; Nayshool, Omri; Shimshoviz, Noam; Bar-Joseph, Ifat; Marek-Yagel, Dina; Javasky, Elisheva; Einy, Reviva; Gal, Moran; Grinshpun-Cohen, Julia; Shohat, Mordechai; Dominissini, Dan; Raas-Rothschild, Annick; Rechavi, Gideon; Pras, Elon; Greenbaum, Lior

Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10-year period

产前诊断新生突变:一家三级医疗中心十年来的经验

Eyal, Ori; Berkenstadt, Michal; Reznik-Wolf, Haike; Poran, Hana; Ziv-Baran, Tomer; Greenbaum, Lior; Yonath, Hagit; Pras, Elon

Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing

利用高通量微流控技术和下一代测序技术,扩大对犹太人群的孕前携带者筛查范围

Gal, Moran; Khermesh, Khen; Barak, Michal; Lin, Min; Lahat, Hadas; Reznik Wolf, Haike; Lin, Michael; Pras, Elon; Levanon, Erez Y

Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy

天冬酰胺合成酶缺乏会导致先天性小头畸形和进行性脑病。

Ruzzo, Elizabeth K; Capo-Chichi, José-Mario; Ben-Zeev, Bruria; Chitayat, David; Mao, Hanqian; Pappas, Andrea L; Hitomi, Yuki; Lu, Yi-Fan; Yao, Xiaodi; Hamdan, Fadi F; Pelak, Kimberly; Reznik-Wolf, Haike; Bar-Joseph, Ifat; Oz-Levi, Danit; Lev, Dorit; Lerman-Sagie, Tally; Leshinsky-Silver, Esther; Anikster, Yair; Ben-Asher, Edna; Olender, Tsviya; Colleaux, Laurence; Décarie, Jean-Claude; Blaser, Susan; Banwell, Brenda; Joshi, Rasesh B; He, Xiao-Ping; Patry, Lysanne; Silver, Rachel J; Dobrzeniecka, Sylvia; Islam, Mohammad S; Hasnat, Abul; Samuels, Mark E; Aryal, Dipendra K; Rodriguiz, Ramona M; Jiang, Yong-Hui; Wetsel, William C; McNamara, James O; Rouleau, Guy A; Silver, Debra L; Lancet, Doron; Pras, Elon; Mitchell, Grant A; Michaud, Jacques L; Goldstein, David B

Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis

TECPR2基因突变揭示了自噬在遗传性痉挛性截瘫中的作用

Oz-Levi, Danit; Ben-Zeev, Bruria; Ruzzo, Elizabeth K; Hitomi, Yuki; Gelman, Amir; Pelak, Kimberly; Anikster, Yair; Reznik-Wolf, Haike; Bar-Joseph, Ifat; Olender, Tsviya; Alkelai, Anna; Weiss, Meira; Ben-Asher, Edna; Ge, Dongliang; Shianna, Kevin V; Elazar, Zvulun; Goldstein, David B; Pras, Elon; Lancet, Doron