Tawfiq J. Froukh

Jerash Road
Amman, AM, Jordan

Last Updated: 09/26/2026

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Found 26 publications

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.

Journal: medRxiv : the preprint server for health sciences

Published: August 16, 2024

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.

Journal: Nature communications

Published: July 14, 2024

Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans.

Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans.

Journal: Genetics in medicine open

Published: July 11, 2024

Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.

Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.

Journal: American journal of human genetics

Published: June 18, 2024

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Journal: medRxiv : the preprint server for health sciences

Published: February 14, 2024

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Journal: Nature communications

Published: August 09, 2023

Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.

Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.

Journal: European journal of human genetics : EJHG

Published: October 18, 2022

A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.

A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.

Journal: American journal of human genetics

Published: March 27, 2022

Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy.

Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy.

Journal: Clinical genetics

Published: March 25, 2021

Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.

Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.

Journal: Journal of medical genetics

Published: January 22, 2021

Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.

Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.

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

Published: October 04, 2020

Homozygous TAF1C variants are associated with a novel childhood-onset neurological phenotype.

Homozygous TAF1C variants are associated with a novel childhood-onset neurological phenotype.

Journal: Clinical genetics

Published: June 16, 2020

Showing 1-12 of 26

Last Updated: 09/26/2026