Nehal F. Hassib

Giza, GZ, Egypt

Last Updated: 09/26/2026

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Found 22 publications

Expanding the phenotypic and immunological landscape of Alazami syndrome: Evidence from seven new patients with LARP7 gene variants.

Expanding the phenotypic and immunological landscape of Alazami syndrome: Evidence from seven new patients with LARP7 gene variants.

Journal: European journal of pediatrics

Published: December 01, 2025

Monoallelic variants in ACVR1 in a cohort of Egyptian individuals with fibrodysplasia ossificans progressiva.

Monoallelic variants in ACVR1 in a cohort of Egyptian individuals with fibrodysplasia ossificans progressiva.

Journal: Clinical dysmorphology

Published: August 28, 2025

COL1-related overlap disorder: An emerging phenotype linked to mono- and bi-allelic COL1A1/2 variants.

COL1-related overlap disorder: An emerging phenotype linked to mono- and bi-allelic COL1A1/2 variants.

Journal: Archives of oral biology

Published: January 25, 2025

Deciphering the phenotypic spectrum associated with MIA3-related odontochondrodysplasia.

Deciphering the phenotypic spectrum associated with MIA3-related odontochondrodysplasia.

Journal: Journal of human genetics

Published: December 03, 2024

Correction to: Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene.

Correction to: Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene.

Journal: Journal of molecular neuroscience : MN

Published: May 31, 2024

A novel missense variant in CAT gene causing acatalasemia with gangrenous periodontitis (Takahara's disease).

A novel missense variant in CAT gene causing acatalasemia with gangrenous periodontitis (Takahara's disease).

Journal: Archives of oral biology

Published: April 11, 2024

Isolated dentinogenesis imperfecta: Novel DSPP variants and insights on genetic counselling.

Isolated dentinogenesis imperfecta: Novel DSPP variants and insights on genetic counselling.

Journal: Clinical oral investigations

Published: September 27, 2023

A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management.

A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management.

Journal: American journal of medical genetics. Part A

Published: May 10, 2023

Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients.

Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients.

Journal: Heliyon

Published: April 14, 2023

Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene and Review of Literature.

Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene and Review of Literature.

Journal: Journal of molecular neuroscience : MN

Published: September 16, 2022

Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity.

Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity.

Journal: Genes

Published: May 12, 2022

Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum.

Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum.

Journal: American journal of medical genetics. Part A

Published: October 10, 2021

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Last Updated: 09/26/2026