Mariam Mureikhi-Al
Doha, DA, Qatar
Last Updated: 09/26/2026
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Found 11 publications
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Journal: American journal of human genetics
Published: May 27, 2022
Gene therapy for spinal muscular atrophy: the Qatari experience.
Journal: Gene therapy
Published: December 08, 2020
A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families.
Journal: American journal of medical genetics. Part A
Published: May 19, 2020
Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome.
Journal: Orphanet journal of rare diseases
Published: December 20, 2018
Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.
Journal: American journal of medical genetics. Part A
Published: October 20, 2018
Natural history, with clinical, biochemical, and molecular characterization of classical homocystinuria in the Qatari population.
Journal: Journal of inherited metabolic disease
Published: October 07, 2018
Clinical genetics and genomic medicine in Qatar.
Journal: Molecular genetics & genomic medicine
Published: August 20, 2018
Autozygome and high throughput confirmation of disease genes candidacy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 16, 2018
A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients.
Journal: JIMD reports
Published: September 05, 2017
De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly.
Journal: Cold Spring Harbor molecular case studies
Published: May 06, 2016
Showing 1-11 of 11
Last Updated: 09/26/2026