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List of works by Eissa A Faqeih

ADAT3-related intellectual disability: Further delineation of the phenotype

scientific article published on 3 February 2016

Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

scientific article published on 01 October 2020

Correction to: Expanding the genetic heterogeneity of intellectual disability.

scientific article published on 29 December 2017

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

scientific article

Expanding the genetic heterogeneity of intellectual disability

scientific article published on 22 September 2017

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice

scientific article

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

scientific article published on 15 September 2020

Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients

scientific article

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

scientific article published on 9 June 2017

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