Aiman M. Shawli

Jeddah, Saudi Arabia

Last Updated: 09/26/2026

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Found 20 publications

DBR1 Gene Mutation: Pathogenicity in the Homozygous State and Its Phenotype in Two Siblings.

DBR1 Gene Mutation: Pathogenicity in the Homozygous State and Its Phenotype in Two Siblings.

Journal: Clinical genetics
Published: November 04, 2025

CCDC39 Mutation-Related Primary Ciliary Dyskinesia with Congenitally Corrected Transposition of the Great Arteries: A Case Report.

CCDC39 Mutation-Related Primary Ciliary Dyskinesia with Congenitally Corrected Transposition of the Great Arteries: A Case Report.

Journal: The American journal of case reports
Published: October 13, 2025

A rare case of de novo 20p12.3 microdeletion syndrome in a nine-year-old female: case report and literature review.

A rare case of de novo 20p12.3 microdeletion syndrome in a nine-year-old female: case report and literature review.

Journal: Frontiers in genetics
Published: July 20, 2025

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Journal: Genome medicine
Published: April 24, 2025

De Novo Deletion in the 12q24.23q24.31 Chromosomal Region Causing a Neurodevelopmental Syndrome in a Female Saudi Patient: A Case Report.

De Novo Deletion in the 12q24.23q24.31 Chromosomal Region Causing a Neurodevelopmental Syndrome in a Female Saudi Patient: A Case Report.

Journal: Cureus
Published: January 28, 2025

Fibrodysplasia Ossificans Progressiva Mimics Generalized Dystonia Disorder: A Case Report.

Fibrodysplasia Ossificans Progressiva Mimics Generalized Dystonia Disorder: A Case Report.

Journal: Cureus
Published: December 19, 2023

Congenital Nemaline Myopathy in Two Neonates With Different Mutations: A Case Series and Literature Review.

Congenital Nemaline Myopathy in Two Neonates With Different Mutations: A Case Series and Literature Review.

Journal: Cureus
Published: September 13, 2023

Down-Klinefelter Syndrome (48,XXY,+21) in a Saudi Neonate: A Case Report and Literature Review.

Down-Klinefelter Syndrome (48,XXY,+21) in a Saudi Neonate: A Case Report and Literature Review.

Journal: Cureus
Published: April 28, 2022

Ectodermal Dysplasia: A Case Report.

Ectodermal Dysplasia: A Case Report.

Journal: Cureus
Published: January 12, 2022

A Novel Variant in the AGPS Gene Causes the Rare Rhizomelic Chondrodysplasia Punctata Type 3: A Case Report.

A Novel Variant in the AGPS Gene Causes the Rare Rhizomelic Chondrodysplasia Punctata Type 3: A Case Report.

Journal: Cureus
Published: December 20, 2021

Rhabdomyoma and Hypoplastic Left Heart Syndrome - Case Report of a Very Rare Combination.

Rhabdomyoma and Hypoplastic Left Heart Syndrome - Case Report of a Very Rare Combination.

Journal: Cureus
Published: November 24, 2021

Clinical and diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patient.

Clinical and diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patient.

Journal: BMC medical genomics
Published: August 13, 2021
Showing 1-12 of 20

Last Updated: 09/26/2026