Nesrin Gariballa

A novel aberrant splice site mutation in <i>COL27A1</i> is responsible for Steel syndrome and extension of the phenotype to include hearing loss

Nesrin Gariballa, Afif Ben‐Mahmoud, Makanko Komara et al. · American Journal of Medical Genetics Part A · 2017 · 24 citations

Life Sciences, Genetics, Molecular Genetics +17

Endoglin mutants retained in the endoplasmic reticulum exacerbate loss of function in hereditary hemorrhagic telangiectasia type 1 (HHT1) by exerting dominant negative effects on the wild type allele

Nesrin Gariballa, Sally Badawi, Bassam R. Ali · Traffic · 2024 · 14 citations · Full text

Life Sciences, Genetics, Pathology +13

The double whammy of ER-retention and dominant-negative effects in numerous autosomal dominant diseases: significance in disease mechanisms and therapy

Nesrin Gariballa, Feda E. Mohamed, Sally Badawi et al. · Journal of Biomedical Science · 2024 · 10 citations · Full text

Life Sciences, Genetics, Molecular Biology +17