Mehrdad A Estiar

Publication Activity (10 Years)

Years Active: 2022-2022
Publications (10 Years): 1

Top Topics

Intellectual Disability

Top Venues

Human molecular genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Franziska Paul, Calista Ng, Umar Bin Mohamad Sahari, Shahriar Nafissi, Yalda Nilipoor, Ali Reza Tavasoli, Carine Bonnard, Pui-Mun Wong, Nasrinsadat Nabavizadeh, Umut Altunoğlu, Mehrdad A Estiar, Charles B L M Majoie, Hane Lee, Stanley F Nelson, Ziv Gan Or, Guy A Rouleau, Paul P Van Veldhoven, Rami Massie, Raoul C Hennekam, Ariana Kariminejad, Bruno Reversade
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder. Human molecular genetics 31 (21) (2022)