Abdelaziz Tlili

Sharjah, SH, United Arab Emirates

Last Updated: 09/26/2026

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Found 54 publications

Expanding the Phenotypic Spectrum of Trafficking Protein Particle Complex Subunit 9-Related Intellectual Developmental Disorder: Prader-Willi-like Presentation in a Tunisian Family.

Expanding the Phenotypic Spectrum of Trafficking Protein Particle Complex Subunit 9-Related Intellectual Developmental Disorder: Prader-Willi-like Presentation in a Tunisian Family.

Journal: Genetic testing and molecular biomarkers

Published: July 08, 2026

The co-occurrence of homozygous variants in GUCY2D and MYO7A in Leber congenital amaurosis associated with deafness: clinical, molecular, and in silico investigation.

The co-occurrence of homozygous variants in GUCY2D and MYO7A in Leber congenital amaurosis associated with deafness: clinical, molecular, and in silico investigation.

Journal: Molecular biology reports

Published: February 20, 2026

Comprehensive Insights into Perrault Syndrome: Genetic Diversity and Clinical Implications.

Comprehensive Insights into Perrault Syndrome: Genetic Diversity and Clinical Implications.

Journal: Reproductive sciences (Thousand Oaks, Calif.)

Published: January 22, 2026

A novel CFAP57 nonsense mutation causes asthenozoospermia in a consanguineous Emirati family.

A novel CFAP57 nonsense mutation causes asthenozoospermia in a consanguineous Emirati family.

Journal: Molecular biology reports

Published: December 11, 2025

A novel homozygous MICOS13 frameshift mutation causing mitochondrial hepatoencephalopathy and mtDNA depletion: clinical characterization and dynamic structural simulation.

A novel homozygous MICOS13 frameshift mutation causing mitochondrial hepatoencephalopathy and mtDNA depletion: clinical characterization and dynamic structural simulation.

Journal: Molecular biology reports

Published: November 22, 2025

LNA GapmeR silencing of KRAS G12V impairs growth and function in SW480 cells.

LNA GapmeR silencing of KRAS G12V impairs growth and function in SW480 cells.

Journal: Molecular and cellular biochemistry

Published: November 03, 2025

Expanding the Clinical Spectrum of SCN8A-Related Epileptic Encephalopathy: Additional Auditory Impairment, Atypical MRI Abnormalities and Putative Mitochondrial Involvement.

Expanding the Clinical Spectrum of SCN8A-Related Epileptic Encephalopathy: Additional Auditory Impairment, Atypical MRI Abnormalities and Putative Mitochondrial Involvement.

Journal: Journal of molecular neuroscience : MN

Published: October 09, 2025

Whole-exome sequencing identifies TRIM72 as a candidate gene for autosomal recessive limb-girdle muscular dystrophy.

Whole-exome sequencing identifies TRIM72 as a candidate gene for autosomal recessive limb-girdle muscular dystrophy.

Journal: Human genomics

Published: July 02, 2025

Analysis of Genotype and Expression of FTO and ALKBH5 in a MENA-Region Renal Cell Carcinoma Cohort.

Analysis of Genotype and Expression of FTO and ALKBH5 in a MENA-Region Renal Cell Carcinoma Cohort.

Journal: Cancers

Published: March 25, 2025

Segregation of Trans Mutations in the CDH23 Gene in an Emirati Family with Sensorineural Hearing Loss.

Segregation of Trans Mutations in the CDH23 Gene in an Emirati Family with Sensorineural Hearing Loss.

Journal: Genes

Published: October 12, 2024

Identification of Genes Associated with Familial Focal Segmental Glomerulosclerosis Through Transcriptomics and In Silico Analysis, Including RPL27, TUBB6, and PFDN5.

Identification of Genes Associated with Familial Focal Segmental Glomerulosclerosis Through Transcriptomics and In Silico Analysis, Including RPL27, TUBB6, and PFDN5.

Journal: International journal of molecular sciences

Published: September 29, 2024

The Segregation of p.Arg68Ter-CLDN14 Mutation in a Syrian Deaf Family, Phenotypic Variations, and Comparative Analysis with the GJB2 Gene.

The Segregation of p.Arg68Ter-CLDN14 Mutation in a Syrian Deaf Family, Phenotypic Variations, and Comparative Analysis with the GJB2 Gene.

Journal: Genes

Published: April 10, 2024

Showing 1-12 of 54

Last Updated: 09/26/2026