Karima Rafat

Cairo, C, Egypt

Last Updated: 09/26/2026

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Found 16 publications

Phenotypic and Genetic Characterization of 64 Egyptian Children With Neuronal Ceroid Lipofuscinosis.

Phenotypic and Genetic Characterization of 64 Egyptian Children With Neuronal Ceroid Lipofuscinosis.

Journal: Pediatric neurology

Published: January 05, 2026

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

Clinical and Genetic Characterization of CAPN3-Related Limb-Girdle Muscular Dystrophies in an Egyptian Cohort.

Clinical and Genetic Characterization of CAPN3-Related Limb-Girdle Muscular Dystrophies in an Egyptian Cohort.

Journal: Pediatric neurology

Published: August 16, 2025

The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants.

The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants.

Journal: Italian journal of pediatrics

Published: February 25, 2025

ADAT3-related neurodevelopmental disorder in 24 new patients with a high frequency of the p.Val144Met and a new founder variant.

ADAT3-related neurodevelopmental disorder in 24 new patients with a high frequency of the p.Val144Met and a new founder variant.

Journal: Scientific reports

Published: October 02, 2024

Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy.

Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy.

Journal: Journal of molecular neuroscience : MN

Published: June 30, 2024

The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.

The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.

Journal: Clinical genetics

Published: October 24, 2023

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.

Journal: American journal of human genetics

Published: May 15, 2023

Dandy-Walker Malformation in a Girl with DDX3X-Related Intellectual Disability.

Dandy-Walker Malformation in a Girl with DDX3X-Related Intellectual Disability.

Journal: Molecular syndromology

Published: May 10, 2023

Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits.

Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits.

Journal: Clinical genetics

Published: February 16, 2023

Clinical and molecular spectrum of a large Egyptian cohort with ALS2-related disorders of infantile-onset of clinical continuum IAHSP/JPLS.

Clinical and molecular spectrum of a large Egyptian cohort with ALS2-related disorders of infantile-onset of clinical continuum IAHSP/JPLS.

Journal: Clinical genetics

Published: February 02, 2023

Spondyloenchondrodysplasia in five new patients: identification of three novel ACP5 variants with variable neurological presentations.

Spondyloenchondrodysplasia in five new patients: identification of three novel ACP5 variants with variable neurological presentations.

Journal: Molecular genetics and genomics : MGG

Published: November 06, 2022

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Last Updated: 09/26/2026