Zainab Al Masseri

Al Qatif, Saudi Arabia

Last Updated: 09/26/2026

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Found 9 publications

High Throughput Evidence Generation to Support Tentative Gene Disease Relationship from A Cohort Enriched for Autozygosity and Founder Effect.

High Throughput Evidence Generation to Support Tentative Gene Disease Relationship from A Cohort Enriched for Autozygosity and Founder Effect.

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

Published: November 24, 2025

Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population.

Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population.

Journal: Molecular genetics & genomic medicine

Published: July 09, 2024

Atypical presentation of anorexia nervosa pediatric patient: A multidisciplinary approach to diagnosis and management.

Atypical presentation of anorexia nervosa pediatric patient: A multidisciplinary approach to diagnosis and management.

Journal: Journal of family medicine and primary care

Published: May 27, 2024

Further delineation of the SCAF4-associated neurodevelopmental disorder.

Further delineation of the SCAF4-associated neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: April 23, 2024

Vitamin D-binding protein deficiency: an underrecognized Mendelian disorder of vitamin D metabolism.

Vitamin D-binding protein deficiency: an underrecognized Mendelian disorder of vitamin D metabolism.

Journal: Human genetics

Published: October 12, 2023

Parkinsonism-dystonia-2: Case-series study from Saudi Arabia.

Parkinsonism-dystonia-2: Case-series study from Saudi Arabia.

Journal: Annals of clinical and translational neurology

Published: August 15, 2023

A molecular study of pediatric pilomyxoid and pilocytic astrocytomas: Genome-wide copy number screening, retrospective analysis of clinicopathological features and long-term clinical outcome.

A molecular study of pediatric pilomyxoid and pilocytic astrocytomas: Genome-wide copy number screening, retrospective analysis of clinicopathological features and long-term clinical outcome.

Journal: Frontiers in oncology

Published: September 01, 2022

Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants.

Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants.

Journal: Molecular genetics and metabolism reports

Published: January 07, 2022

Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome.

Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome.

Journal: American journal of medical genetics. Part A

Published: November 30, 2020

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Last Updated: 09/26/2026