Mariam Al‐Mureikhi

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout et al. · Human Mutation · 2013 · 220 citations

Life Sciences, Genetics, Molecular Genetics +17

High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders

Tarunashree Yavarna, Nader Al‐Dewik, Mariam Al‐Mureikhi et al. · Human Genetics · 2015 · 191 citations

Life Sciences, Genetics, Molecular Genetics +17

Autozygome and high throughput confirmation of disease genes candidacy

Sateesh Maddirevula, Fatema Alzahrani, Mohammed Al‐Owain et al. · Genetics in Medicine · 2018 · 118 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

A novel missense mutation in the galactosyltransferase‐I (<i>B4GALT7</i>) gene in a family exhibiting facioskeletal anomalies and Ehlers–Danlos syndrome resembling the progeroid type

Muhammad Faiyaz‐Ul‐Haque, Syed Hassan Ejaz Zaidi, Mariam Al‐Ali et al. · American Journal of Medical Genetics Part A · 2004 · 109 citations

Life Sciences, Genetics, Molecular Genetics +14

Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome

Natascia Anastasio, Tawfeg Ben‐Omran, Ahmad S. Teebi et al. · The American Journal of Human Genetics · 2010 · 75 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5