Samira I. Ismail
Cairo, C, Egypt
Last Updated: 09/26/2026
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Found 30 publications
PCSK9 Involvement in Autism Etiology: Sequence Variations, Protein Concentration, and Promoter Methylation.
Journal: Archives of medical research
Published: February 15, 2023
Expansion of the phenotypic and mutational spectrum of Carpenter syndrome.
Journal: European journal of medical genetics
Published: April 10, 2021
First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations.
Journal: Molecular syndromology
Published: March 09, 2021
Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.
Journal: Frontiers in genetics
Published: July 06, 2020
Clinical and genetic characterization of ten Egyptian patients with Wolf-Hirschhorn syndrome and review of literature.
Journal: Molecular genetics & genomic medicine
Published: July 05, 2020
Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.
Journal: American journal of medical genetics. Part A
Published: June 24, 2020
A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: June 08, 2020
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Journal: American journal of human genetics
Published: April 28, 2020
Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.
Journal: American journal of medical genetics. Part A
Published: July 09, 2019
The potential impact of COMT gene variants on dopamine regulation and phenotypic traits of ASD patients.
Journal: Behavioural brain research
Published: June 02, 2019
Genetic assessment of ten Egyptian patients with Sjögren-Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation.
Journal: Archives of dermatological research
Published: February 25, 2019
Study of C677T variant of methylene tetrahydrofolate reductase gene in autistic spectrum disorder Egyptian children.
Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
Published: November 27, 2018
Last Updated: 09/26/2026