Muhammad Haque-Ul

Riyadh, Saudi Arabia

Last Updated: 09/26/2026

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Found 11 publications

Understanding the Spectrum of Mild Clinical Outcomes and Novel Findings in Arterial Tortuosity Syndrome Among Qatari Patients: Implications of SLC2A10 Mutation.

Understanding the Spectrum of Mild Clinical Outcomes and Novel Findings in Arterial Tortuosity Syndrome Among Qatari Patients: Implications of SLC2A10 Mutation.

Journal: Biomedicines

Published: November 28, 2024

Ultrastructure abnormalities of collagen and elastin in Arab patients with arterial tortuosity syndrome.

Ultrastructure abnormalities of collagen and elastin in Arab patients with arterial tortuosity syndrome.

Journal: Journal of cutaneous pathology

Published: October 25, 2021

Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways.

Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways.

Journal: Omics : a journal of integrative biology

Published: February 28, 2020

Novel and recurrent germline mutations in the VHL gene in 5 Arab patients with Von Hippel-Lindau disease.

Novel and recurrent germline mutations in the VHL gene in 5 Arab patients with Von Hippel-Lindau disease.

Journal: Cancer genetics

Published: July 15, 2019

Spectrum of the KIT Gene Mutations in Gastrointestinal Stromal Tumors in Arab Patients

Spectrum of the KIT Gene Mutations in Gastrointestinal Stromal Tumors in Arab Patients

Journal: Asian Pacific journal of cancer prevention : APJCP

Published: October 27, 2018

Vitamin D Receptor FokI, ApaI, and TaqI Polymorphisms in Lead Exposed Subjects From Saudi Arabia.

Vitamin D Receptor FokI, ApaI, and TaqI Polymorphisms in Lead Exposed Subjects From Saudi Arabia.

Journal: Frontiers in genetics

Published: September 02, 2018

Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation.

Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: August 10, 2017

Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population.

Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population.

Journal: Pakistan journal of medical sciences

Published: February 13, 2016

Mutations in MSX1, PAX9 and MMP20 genes in Saudi Arabian patients with tooth agenesis.

Mutations in MSX1, PAX9 and MMP20 genes in Saudi Arabian patients with tooth agenesis.

Journal: European journal of medical genetics

Published: December 25, 2015

Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds.

Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds.

Journal: Annals of Saudi medicine

Published: June 05, 2014

Prognostically significant fusion oncogenes in Pakistani patients with adult acute lymphoblastic leukemia and their association with disease biology and outcome.

Prognostically significant fusion oncogenes in Pakistani patients with adult acute lymphoblastic leukemia and their association with disease biology and outcome.

Journal: Asian Pacific journal of cancer prevention : APJCP

Published: September 22, 2012

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Last Updated: 09/26/2026