Ibrahim M. Abdelrazek

Alexandria, ALX, Egypt

Last Updated: 09/26/2026

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Found 15 publications

A Multicenter Integrative Cohort Characterizing the Genetic, Clinical, and Transcriptomic Features of ACP5 Deficiency.

A Multicenter Integrative Cohort Characterizing the Genetic, Clinical, and Transcriptomic Features of ACP5 Deficiency.

Journal: Arthritis & rheumatology (Hoboken, N.J.)

Published: January 25, 2026

Lessons learned from the exome sequencing of nine cases of infertility and the way forward.

Lessons learned from the exome sequencing of nine cases of infertility and the way forward.

Journal: Reproductive biomedicine online

Published: July 28, 2025

Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities.

Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities.

Journal: American journal of human genetics

Published: July 19, 2025

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy.

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy.

Journal: American journal of human genetics

Published: July 14, 2025

A homozygous synonymous NOP58 variant causes a neurodevelopmental disorder by impairing maturation of pre-ribosomal RNAs.

A homozygous synonymous NOP58 variant causes a neurodevelopmental disorder by impairing maturation of pre-ribosomal RNAs.

Journal: HGG advances

Published: June 24, 2025

Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation.

Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation.

Journal: HGG advances

Published: February 10, 2025

Two Novel Protein-Truncating Variants in NLRP2 and Their Functional Impacts on the Subcortical Maternal Complex.

Two Novel Protein-Truncating Variants in NLRP2 and Their Functional Impacts on the Subcortical Maternal Complex.

Journal: Clinical genetics

Published: November 29, 2024

An Update on 3M Syndrome: Review of Clinical and Molecular Aspects and Report of Additional Families.

An Update on 3M Syndrome: Review of Clinical and Molecular Aspects and Report of Additional Families.

Journal: American journal of medical genetics. Part A

Published: November 26, 2024

Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome.

Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome.

Journal: Journal of human genetics

Published: September 04, 2024

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Journal: Research square

Published: June 21, 2024

A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia.

A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia.

Journal: Journal of human genetics

Published: April 22, 2024

Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical Finding.

Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical Finding.

Journal: Molecular genetics & genomic medicine

Published: March 18, 2024

Showing 1-12 of 15

Last Updated: 09/26/2026