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List of works by Samira Ismail

A study of gender outcome of Egyptian patients with 46,XY disorder of sex development.

scientific article published on 24 July 2010

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

scientific article

Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region.

scientific article published on 16 August 2002

Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations.

scientific article

Genetic variants of neurotransmitter-related genes and miRNAs in Egyptian autistic patients

scientific article published on 23 December 2013

Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene

scientific article published on September 2014

LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome

scientific article

Mild facial dysmorphism and quasidominant inheritance in Cenani-Lenz syndrome

scientific article

Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism

scientific article

Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly

scientific article published on 13 February 2014

Phenotypic and cytogenetic spectrum of 9p trisomy

scientific article

Study of C677T variant of methylene tetrahydrofolate reductase gene in autistic spectrum disorder Egyptian children

scientific article published on 29 April 2019

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