Samia A. Temtamy

Cairo, C, Egypt

Last Updated: 09/26/2026

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Found 50 publications

Clinical and molecular characterization in a cohort of patients with progressive pseudorheumatoid dysplasia.

Clinical and molecular characterization in a cohort of patients with progressive pseudorheumatoid dysplasia.

Journal: American journal of medical genetics. Part A

Published: March 21, 2023

Using Online Mendelian Inheritance in Man in low- and middle-income countries.

Using Online Mendelian Inheritance in Man in low- and middle-income countries.

Journal: American journal of medical genetics. Part A

Published: April 14, 2021

Expansion of the phenotypic and mutational spectrum of Carpenter syndrome.

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.

First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations.

Journal: Molecular syndromology

Published: March 09, 2021

Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene.

Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene.

Journal: Journal, genetic engineering & biotechnology

Published: February 23, 2021

Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly.

Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly.

Journal: Molecular genetics & genomic medicine

Published: January 03, 2021

3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease.

3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease.

Journal: Bone research

Published: September 25, 2020

Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly.

Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: August 20, 2020

Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.

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

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.

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

Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly.

Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly.

Journal: Journal of medical genetics

Published: June 28, 2019

Showing 1-12 of 50

Last Updated: 09/26/2026