Maryam Y. Busehail

Manama, Bahrain

Last Updated: 09/26/2026

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Found 20 publications

Spectrum of Congenital Anomalies Among Neonates With Trisomy 21 Born at Salmaniya Medical Complex, Bahrain: A Retrospective Review (2015-2020).

Spectrum of Congenital Anomalies Among Neonates With Trisomy 21 Born at Salmaniya Medical Complex, Bahrain: A Retrospective Review (2015-2020).

Journal: Cureus

Published: June 12, 2026

A Delayed Presentation of Salt-Wasting Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Deficiency in an Infant: A Case Report.

A Delayed Presentation of Salt-Wasting Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Deficiency in an Infant: A Case Report.

Journal: Cureus

Published: May 12, 2026

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

The RAB3A hot spot variant R83W causes spasticity as part of the ataxia-spasticity spectrum.

The RAB3A hot spot variant R83W causes spasticity as part of the ataxia-spasticity spectrum.

Journal: Brain : a journal of neurology

Published: September 15, 2025

Uncovering Glucose-6-Phosphate Isomerase (GPI) Deficiency in a Five-Year-Old With Hemolytic Anemia in Bahrain.

Uncovering Glucose-6-Phosphate Isomerase (GPI) Deficiency in a Five-Year-Old With Hemolytic Anemia in Bahrain.

Journal: Cureus

Published: June 18, 2025

Acrodermatitis Enteropathica in a Child in Bahrain: A Case Report and Literature Review.

Acrodermatitis Enteropathica in a Child in Bahrain: A Case Report and Literature Review.

Journal: Cureus

Published: February 04, 2025

Trichohepatoenteric Syndrome: A Report of Two Children From Bahrain With a Novel Mutation and a Literature Review.

Trichohepatoenteric Syndrome: A Report of Two Children From Bahrain With a Novel Mutation and a Literature Review.

Journal: Cureus

Published: December 12, 2024

Clinical variability in cerebrotendinous xanthomatosis (CTX): Insights from 16 cases across Gulf Cooperation Council's (GCC's) high consanguineous population.

Clinical variability in cerebrotendinous xanthomatosis (CTX): Insights from 16 cases across Gulf Cooperation Council's (GCC's) high consanguineous population.

Journal: Journal of clinical lipidology

Published: November 25, 2024

Genetically Confirmed Wilson Disease: A Retrospective Cohort Study From Bahrain.

Genetically Confirmed Wilson Disease: A Retrospective Cohort Study From Bahrain.

Journal: Cureus

Published: October 14, 2024

Landau-Kleffner Syndrome Can Herald the Diagnosis of GRIN2A Gene Mutation.

Landau-Kleffner Syndrome Can Herald the Diagnosis of GRIN2A Gene Mutation.

Journal: Case reports in pediatrics

Published: August 31, 2024

Cowden Syndrome: A Rare Cause of Intestinal Polyposis.

Cowden Syndrome: A Rare Cause of Intestinal Polyposis.

Journal: Cureus

Published: July 18, 2024

A Novel Cyclin-Dependent Kinase 13 Variant and Unusual Association of Situs Inversus Partialis in a Child From Bahrain: A Case Report and Literature Review.

A Novel Cyclin-Dependent Kinase 13 Variant and Unusual Association of Situs Inversus Partialis in a Child From Bahrain: A Case Report and Literature Review.

Journal: Cureus

Published: May 21, 2024

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Last Updated: 09/26/2026