Nada Al-Sheqaih

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

Ilham Ratbi, Kim D. Falkenberg, Manou Sommen et al. · The American Journal of Human Genetics · 2015 · 128 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome

Mariella Simon, Élodie M. Richard, Xinjian Wang et al. · PLoS Genetics · 2015 · 113 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Non lethal Raine syndrome and differential diagnosis

Siham Chafai Elalaoui, Nada Al-Sheqaih, Ilham Ratbi et al. · European Journal of Medical Genetics · 2016 · 38 citations

Medicine, Pediatrics, Pediatric Hematology +4

Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene

Ilham Ratbi, Imane Cherkaoui Jaouad, Hamza ELORCH et al. · European Journal of Medical Genetics · 2016 · 26 citations · Full text

Life Sciences, Genetics, Ophthalmology +10

Exome Sequencing Identifies a Dominant <b><i>TNNT3</i></b> Mutation in a Large Family with Distal Arthrogryposis

Sarah B. Daly, Hitesh Shah, James O’Sullivan et al. · Molecular Syndromology · 2014 · 19 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15