Jozef L. Hertecant

Al Ain, AZ, United Arab Emirates

Last Updated: 09/26/2026

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Found 58 publications

Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy.

Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy.

Journal: American journal of medical genetics. Part A

Published: June 12, 2022

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.

Journal: Human molecular genetics

Published: January 04, 2022

Case Report: Reinterpretation and Reclassification of ARSB:p.Arg159Cys Variant Identified in an Emirati Patient With Hearing Loss Caused by a Pathogenic Variant in the CDH23 Gene.

Case Report: Reinterpretation and Reclassification of ARSB:p.Arg159Cys Variant Identified in an Emirati Patient With Hearing Loss Caused by a Pathogenic Variant in the CDH23 Gene.

Journal: Frontiers in pediatrics

Published: October 28, 2021

Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1.

Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1.

Journal: Hepatology communications

Published: October 22, 2021

Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients.

Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients.

Journal: Genes

Published: July 30, 2021

De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy.

De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy.

Journal: Molecular brain

Published: June 29, 2021

Spectrum of neuro-genetic disorders in the United Arab Emirates national population.

Spectrum of neuro-genetic disorders in the United Arab Emirates national population.

Journal: Clinical genetics

Published: June 10, 2021

Bi-allelic null variant in matrix metalloproteinase-15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive.

Bi-allelic null variant in matrix metalloproteinase-15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive.

Journal: Clinical genetics

Published: March 24, 2021

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.

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

Published: March 19, 2021

Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations.

Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations.

Journal: Journal of clinical medicine

Published: December 31, 2020

Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy.

Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy.

Journal: Clinical genetics

Published: November 24, 2020

Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.

Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.

Journal: Molecular genetics and metabolism

Published: April 21, 2020

Showing 1-12 of 58

Last Updated: 09/26/2026