Ayman W. El‐Hattab

Expanding the genetic heterogeneity of intellectual disability

Shams Anazi, Sateesh Maddirevula, Vincenzo Salpietro et al. · Human Genetics · 2017 · 173 citations

Intellectual Impairment, Genetics, Disability +6

Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation

Ayman W. El‐Hattab, Jean W. Hsu, Lisa Emrick et al. · Molecular Genetics and Metabolism · 2012 · 156 citations · Full text

Translational Medicine, Arginine Supplementation, Melas Syndrome +4

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

Yavuz Bayram, Ender Karaca, Zeynep Coban‐Akdemir et al. · Journal of Clinical Investigation · 2016 · 110 citations · Full text

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

Wu‐Lin Charng, Ender Karaca, Zeynep Coban‐Akdemir et al. · BMC Medical Genomics · 2016 · 108 citations · Full text

Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects

Ayman W. El‐Hattab, Fangyuan Li, Joseph Shen et al. · Genetics in Medicine · 2010 · 107 citations

Nutrition, Newborn Screening, Pediatrics +8