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Clinical Exome Sequencing unravels new disease-causing mutations in the myeloproliferative neoplasms: A pilot study in patients from the state of Qatar.
(
Elsevier
, 2018 , Article)
Clinical Exome Sequencing (CES) has increasingly become a popular diagnostic tool in patients suffering from genetic disorders that are clinically and genetically complicated. Myeloproliferative Neoplasms (MPNs) is an ...
In silico and in vivo models for Qatari-Specific classical homocystinuria as basis for development of novel therapies.
(
Wiley
, 2018 , Article)
Homocystinuria is a rare inborn error of methionine metabolism caused by cystathionine β-synthase (CBS) deficiency. The prevalence of homocystinuria in Qatar is 1:1,800 births, mainly due to a founder Qatari missense ...
Natural History, with Clinical, Biochemical and Molecular Characterization, of Classical Homocystinuria in the Qatari Population
(
Wiley
, 2019 , Article)
Classical homocystinuria (HCU) is the most common inborn error of metabolism in Qatar, with an incidence of 1:1800, and is caused by the Qatari founder p.R336C mutation in the CBS gene. This study describes the natural ...
The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar
(
Springer Nature
, 2024 , Article)
Hearing loss is the most predominant sensory defect occurring in pediatrics, of which, 66% cases are attributed to genetic factors. The prevalence of hereditary hearing loss increases in consanguineous populations, and the ...