Malak Darawshe

Affiliations

Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

Publications (3)

Re-evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant.

Human mutation

Avec: Yael Goldberg , Yael Laitman , Merav Ben David , Lily Bazak , Gabriel Lidzbarsky , Lina B Salmon , Shiri Shkedi-Rafid , Iris Barshack , Camila Avivi , Noam Shomron , Revital Bruchim , Chana Vinkler , Drakoulis Yannoukakos , Florentia Fostira , Rinat Bernstein-Molho , Eitan Friedman

A novel SLC25A13 gene splice site variant causes Citrin deficiency in an infant.

Gene

Avec: Nimrod Sachs , Oded Wechsberg , Yuval E Landau , Irit Krause , Ifat Israel Elgali , Noam Shomron , Gabriel Lidzbarsky , Naama Orenstein

Two intronic cis-acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia.

Clinical genetics

Avec: Avi Fellner , Alexander Lossos , Elena Kogan , Zohar Argov , Claudia Gonzaga-Jauregui , Alan R Shuldiner , Lily Bazak , Gabriel Lidzbarsky , Noam Shomron , Lina Basel-Salmon , Yael Goldberg

Réseau de co-auteurs

Gabriel Lidzbarsky 3 collaborations

Noam Shomron 3 collaborations

Yael Goldberg 2 collaborations

Lily Bazak 2 collaborations

Yael Laitman 1 collaboration

Merav Ben David 1 collaboration

Lina B Salmon 1 collaboration

Shiri Shkedi-Rafid 1 collaboration

Iris Barshack 1 collaboration

Camila Avivi 1 collaboration

Revital Bruchim 1 collaboration

Chana Vinkler 1 collaboration

Drakoulis Yannoukakos 1 collaboration

Florentia Fostira 1 collaboration

Rinat Bernstein-Molho 1 collaboration

Eitan Friedman 1 collaboration

Nimrod Sachs 1 collaboration

Oded Wechsberg 1 collaboration

Yuval E Landau 1 collaboration

Irit Krause 1 collaboration

Ifat Israel Elgali 1 collaboration

Naama Orenstein 1 collaboration

Avi Fellner 1 collaboration

Alexander Lossos 1 collaboration

Elena Kogan 1 collaboration

Zohar Argov 1 collaboration

Claudia Gonzaga-Jauregui 1 collaboration

Alan R Shuldiner 1 collaboration

Lina Basel-Salmon 1 collaboration