Lova S. Matsa
Dubai, DU, United Arab Emirates
Last Updated: 09/26/2026
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Found 13 publications
The importance of integrating genetic testing into reproductive medicine: a retrospective observational study investigating the monogenic causes of human infertility in couples considering ICSI.
Journal: Journal of human genetics
Published: March 04, 2026
Pathogenic variants in BORCS5 cause a spectrum of neurodevelopmental and neurodegenerative disorders with lysosomal dysfunction.
Journal: The Journal of clinical investigation
Published: June 10, 2025
Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.
Journal: medRxiv : the preprint server for health sciences
Published: May 19, 2025
Analysis of Copy Number Variants Is an Important Consideration in Exome Sequencing.
Journal: Clinical genetics
Published: February 26, 2025
Novel Coenzyme Q2 (CoQ2) Mutation in a Pediatric Patient With Primary Steroid-Resistant Nephrotic Syndrome Due to Coenzyme Q10 (CoQ10) Deficiency.
Journal: Cureus
Published: December 09, 2024
Integrating Prenatal Exome Sequencing and Ultrasonographic Fetal Phenotyping for Assessment of Congenital Malformations: High Molecular Diagnostic Yield and Novel Phenotypic Expansions in a Consanguineous Cohort.
Journal: Clinical genetics
Published: November 02, 2024
Fetal Phenotyping and Whole Exome Sequencing for 12 Egyptian Families With Serine Biosynthesis Defect: Novel Clinical and Allelic Findings With a Founder Effect.
Journal: Prenatal diagnosis
Published: July 23, 2024
Expanding families: a pilot study on preconception expanded carrier screening in Bahrain.
Journal: BMC pregnancy and childbirth
Published: July 18, 2024
Novel CTSF Indel in a patient with Kufs disease and resistant schizophrenia: A case report.
Journal: Schizophrenia research
Published: September 09, 2020
Last Updated: 09/26/2026