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

A Retrospective Cross-Sectional Study of 142 Patients in a Multidisciplinary Tuberous Sclerosis Clinic

一项对多学科结节性硬化症诊所142例患者进行的回顾性横断面研究

Weisblum Neuman, Hila; Via Dorembus, Sara; Shlomovitz, Omer; Greenberger, Shoshana; Lahav, Einat; Mini-Goldberger, Sharon; Tzadok, Michal

Genetic Terminal Complement Deficiency in Israeli Bedouins With Kidney Failure

以色列贝都因人肾衰竭中的遗传性末端补体缺陷

Chowers, Guy; Ben-Ruby, Dror; Atias-Varon, Danit; Shlomovitz, Omer; Slabodnik-Kaner, Keren; Kagan, Maayan; Avayou, Shany; Romanjuk, Elvira; Rogachev, Boris; Haviv, Yosef S; Birk, Ohad S; Hadar, Noam; Bathish, Younes; Barshack, Iris; Volkov, Alexander; Avivi, Camila; Pavlovsky, Anna; Haskin, Orly; Simon, Amos J; Glick-Saar, Efrat; Ostrovsky, Alina; Assi, Mawada; Schreiber, Ruth; Levin, Dana; Yagil, Yoram; Awawdeh, Mohammad; Skorecki, Karl; Dominissini, Dan; Shnaider, Alla; Vivante, Asaf

Elucidating Mechanisms of Hypomorphic WDR19-Related Kidney Failure

阐明低表达WDR19相关肾衰竭的机制

Shlomovitz, Omer; Ben-Haim, Yam; Eisenstein, Netanel; Armon, Leah; Grinberg, Igor; Polak-Charcon, Sylvie; Atias-Varon, Danit; Chowers, Guy; Ben-Ruby, Dror; Urbach, Achia; Vivante, Asaf

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

Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure

外显子组测序在以色列儿童肾衰竭诊断中的应用价值

Ben-Moshe, Yishay; Shlomovitz, Omer; Atias-Varon, Danit; Haskin, Orly; Ben-Shalom, Efrat; Shasha Lavsky, Hadas; Volovelsky, Oded; Mane, Shrikant; Ben-Ruby, Dror; Chowers, Guy; Skorecki, Karl; Borovitz, Yael; Kagan, Maayan; Mor, Nofar; Khavkin, Yulia; Tzvi-Behr, Shimrit; Pollack, Shirley; Toder, Moran Plonsky; Geylis, Michael; Schnapp, Aviad; Becker-Cohen, Rachel; Weissman, Irith; Schreiber, Ruth; Davidovits, Miriam; Frishberg, Yaacov; Magen, Daniella; Barel, Ortal; Vivante, Asaf

Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders

外显子组测序在普通儿科病房中对疑似遗传疾病住院儿童的临床意义

Kagan, Maayan; Semo-Oz, Rotem; Ben Moshe, Yishay; Atias-Varon, Danit; Tirosh, Irit; Stern-Zimmer, Michal; Eliyahu, Aviva; Raas-Rothschild, Annick; Bivas, Maayan; Shlomovitz, Omer; Chorin, Odelia; Rock, Rachel; Tzadok, Michal; Ben-Zeev, Bruria; Heimer, Gali; Bolkier, Yoav; Gruber, Noah; Dagan, Adi; Bar Aluma, Bat El; Pessach, Itai M; Rechavi, Gideon; Barel, Ortal; Pode-Shakked, Ben; Anikster, Yair; Vivante, Asaf