Syed I. Raza

Islamabad, IS, Pakistan

Last Updated: 09/26/2026

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Found 25 publications

Sequence variants underlying severe combined immunodeficiency and leukocyte adhesion deficiency type 1 in six consanguineous families.

Sequence variants underlying severe combined immunodeficiency and leukocyte adhesion deficiency type 1 in six consanguineous families.

Journal: Immunogenetics
Published: June 26, 2024

Exome sequencing revealed variants in SGCA and SIL1 genes underlying limb girdle muscular dystrophy and Marinesco-Sjögren syndrome patients.

Exome sequencing revealed variants in SGCA and SIL1 genes underlying limb girdle muscular dystrophy and Marinesco-Sjögren syndrome patients.

Journal: Molecular biology reports
Published: March 19, 2024

Correction: Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13.

Correction: Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13.

Journal: Journal of human genetics
Published: June 17, 2021

Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13.

Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13.

Journal: Journal of human genetics
Published: January 20, 2021

β2 Integrin Gene (ITGB2) mutation spectra in Pakistani families with leukocyte adhesion deficiency type 1 (LAD1).

β2 Integrin Gene (ITGB2) mutation spectra in Pakistani families with leukocyte adhesion deficiency type 1 (LAD1).

Journal: Immunobiology
Published: February 18, 2020

Relationship of S/R warfarin ratio with CYP2C9 genotypes in Pakistani population.

Relationship of S/R warfarin ratio with CYP2C9 genotypes in Pakistani population.

Journal: Pakistan journal of pharmaceutical sciences
Published: October 15, 2019

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses.

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses.

Journal: The Journal of experimental medicine
Published: February 22, 2019

Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance.

Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance.

Journal: Journal of human genetics
Published: September 28, 2018

Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux.

Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux.

Journal: The international journal of biochemistry & cell biology
Published: May 10, 2018

Role of gut microbiota against calcium oxalate.

Role of gut microbiota against calcium oxalate.

Journal: Microbial pathogenesis
Published: May 17, 2017

Autosomal recessive transmission of a rare HOXC13 variant causes pure hair and nail ectodermal dysplasia.

Autosomal recessive transmission of a rare HOXC13 variant causes pure hair and nail ectodermal dysplasia.

Journal: Clinical and experimental dermatology
Published: October 16, 2016

Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome.

Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome.

Journal: Clinical dysmorphology
Published: November 19, 2015
Showing 1-12 of 25

Last Updated: 09/26/2026