Publications by authors named "Nada Al-Sheqaih"

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Non lethal Raine syndrome and differential diagnosis.
Siham Chafai Elalaoui, Nada Al-Sheqaih, Ilham Ratbi, Jill E Urquhart, James O'Sullivan

Eur J Med Genet· November 2016

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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, Nada Al-Sheqaih, Mustapha Elalloussi

Eur J Med Genet· October 2016

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Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.
Ilham Ratbi, Kim D Falkenberg, Manou Sommen, Nada Al-Sheqaih, Soukaina Guaoua

Am J Hum Genet· October 2015

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Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
Mariella Simon, Elodie M Richard, Xinjian Wang, Mohsin Shahzad, Vincent H Huang, Nada Al-Sheqaih

PLoS Genet· March 2015

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Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis.
Sarah B Daly, Hitesh Shah, James O'Sullivan, Beverley Anderson, Sanjeev Bhaskar, Nada Al-Sheqaih

Mol Syndromol· August 2014

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