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Authors whose works are in public domain in at least one jurisdiction

List of works by Tawfeg Ben-Omran

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Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome

scientific article published on 27 August 2019
Effects of consanguinity in a cohort of subjects with certain genetic disorders in Qatar

scientific article published on 02 December 2019
Cono-spondylar dysplasia: clinical, radiographic, and molecular findings of a previously unreported disorder

scientific article published on 26 June 2014
Analysis of the Qatari R336C cystathionine β-synthase protein in mice

scientific article published on 10 July 2019
Correction to: Expanding the genetic heterogeneity of intellectual disability.

scientific article published on 29 December 2017
Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability

scientific article published on 21 May 2020
Point of Care Exome Sequencing Reveals Allelic and Phenotypic Heterogeneity Underlying Mendelian disease in Qatar

scientific article published on 01 December 2019
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition

scientific article published on 14 November 2020
Further delineation of HIDEA syndrome

scientific article published on 23 September 2020
A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families

scientific article published on 28 August 2020

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