Aziza Chedrawi

Riyadh, Saudi Arabia

Last Updated: 09/26/2026

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Found 19 publications

Disease characteristics of SEPSECS deficiency: an international, retrospective, multicenter cohort study.

Disease characteristics of SEPSECS deficiency: an international, retrospective, multicenter cohort study.

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

Published: April 02, 2025

Arab founder variants: Contributions to clinical genomics and precision medicine.

Arab founder variants: Contributions to clinical genomics and precision medicine.

Journal: Med (New York, N.Y.)

Published: June 17, 2024

A programmed decline in ribosome levels governs human early neurodevelopment.

A programmed decline in ribosome levels governs human early neurodevelopment.

Journal: Nature cell biology

Published: May 01, 2024

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.

Journal: EBioMedicine

Published: March 03, 2024

Central pontine myelinolysis and locked-IN syndrome associated with tacrolimus after pediatric heart transplantation.

Central pontine myelinolysis and locked-IN syndrome associated with tacrolimus after pediatric heart transplantation.

Journal: Pediatric transplantation

Published: June 12, 2022

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Journal: Molecular psychiatry

Published: April 05, 2022

Hematological findings associated with tubulin-folding cofactors D-related encephalopathy: Expanding the phenotype.

Hematological findings associated with tubulin-folding cofactors D-related encephalopathy: Expanding the phenotype.

Journal: Clinical genetics

Published: November 08, 2020

Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay.

Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay.

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

Published: September 26, 2020

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

Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.

Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.

Journal: Acta neuropathologica

Published: December 23, 2019

Beyond a routine blood gas, an easily picked but missed diagnosis of chronic Encephalopathy.

Beyond a routine blood gas, an easily picked but missed diagnosis of chronic Encephalopathy.

Journal: International journal of pediatrics & adolescent medicine

Published: October 29, 2019

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Journal: American journal of human genetics

Published: October 05, 2019

Showing 1-12 of 19

Last Updated: 09/26/2026