Abdelaziz Sefiani
Rabat, Morocco
Last Updated: 09/26/2026
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Found 106 publications
Genetic Landscape of NAT2 in the Moroccan Population: Implications for Isoniazid Pharmacogenetics in Tuberculosis.
Journal: Clinical and translational science
Published: December 15, 2025
Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing.
Journal: Molecular genetics & genomic medicine
Published: September 11, 2025
Clinical Exome Sequencing as a Key Diagnostic Tool: A Rare de novo TRIO Variant in Dizygotic Twins.
Journal: Molecular syndromology
Published: July 17, 2025
Highlighting the different facets of SMC1A truncating variants: Two patients with novel SMC1A pathogenic variants.
Journal: Epileptic disorders : international epilepsy journal with videotape
Published: September 11, 2024
The c.529G>A (p.Ala177Thr) RNASEH2B Gene Pathogenic Variant as a First-Line Genetic Test for Aicardi-Goutières Syndrome: A Case Series of Four Moroccan Families.
Journal: American journal of medical genetics. Part A
Published: August 28, 2024
Novel variant related to SATB2-associated syndrome.
Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
Published: June 20, 2024
Clinical Exome Sequencing Reveals Novel Mutations in SPTB Gene Associated with Hereditary Spherocytosis in Patients with Suspected Congenital Hemolytic Anemia.
Journal: Hemoglobin
Published: June 04, 2024
A series of four patients with Sotos syndrome harboring novel NSD1 mutations: clinical and molecular description.
Journal: Molecular biology reports
Published: June 04, 2024
Molecular diagnosis of Alpha-sarcoglycanopathies by NGS in seven Moroccan families and report of two novel variants.
Journal: Irish journal of medical science
Published: April 01, 2024
Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report.
Journal: Balkan journal of medical genetics : BJMG
Published: March 14, 2024
A maternally derived complex small supernumerary marker chromosome involving chromosomes 8 and 14: case report and review of the literature.
Journal: Frontiers in genetics
Published: November 01, 2023
Two Moroccan Families with Emery-Dreifuss Muscular Dystrophy and Report of a Novel LMNA Pathogenic Variant.
Journal: Molecular syndromology
Published: September 13, 2023
Last Updated: 09/26/2026