Nouran Adly

Riyadh, Saudi Arabia

Last Updated: 09/26/2026

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Found 13 publications

Sodium Oxybate-Treated Familial Myoclonus-Dystonia Syndrome Due to Novel SGCE Variant.

Sodium Oxybate-Treated Familial Myoclonus-Dystonia Syndrome Due to Novel SGCE Variant.

Journal: American journal of medical genetics. Part A

Published: August 08, 2024

Periocular Pigmented Basal Cell Carcinomas: Clinicopathologic Features and Mutational Profile.

Periocular Pigmented Basal Cell Carcinomas: Clinicopathologic Features and Mutational Profile.

Journal: Ophthalmic plastic and reconstructive surgery

Published: June 14, 2022

Molecular autopsy by proxy in preconception counseling.

Molecular autopsy by proxy in preconception counseling.

Journal: Clinical genetics

Published: May 31, 2021

Clinical and Genetic Characterization of Craniosynostosis in Saudi Arabia.

Clinical and Genetic Characterization of Craniosynostosis in Saudi Arabia.

Journal: Frontiers in pediatrics

Published: July 29, 2020

Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.

Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.

Journal: Clinical genetics

Published: May 19, 2020

Study of Mendelian forms of Crohn's disease in Saudi Arabia reveals novel risk loci and alleles.

Study of Mendelian forms of Crohn's disease in Saudi Arabia reveals novel risk loci and alleles.

Journal: Gut

Published: August 23, 2014

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Journal: Cell reports

Published: August 21, 2014

Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX.

Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX.

Journal: Human mutation

Published: September 06, 2013

Expanding the clinical spectrum and allelic heterogeneity in van den Ende-Gupta syndrome.

Expanding the clinical spectrum and allelic heterogeneity in van den Ende-Gupta syndrome.

Journal: Clinical genetics

Published: May 02, 2013

Mutations in LRPAP1 are associated with severe myopia in humans.

Mutations in LRPAP1 are associated with severe myopia in humans.

Journal: American journal of human genetics

Published: April 02, 2013

Mutation in MPDZ causes severe congenital hydrocephalus.

Mutation in MPDZ causes severe congenital hydrocephalus.

Journal: Journal of medical genetics

Published: December 15, 2012

LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency.

LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency.

Journal: The Journal of allergy and clinical immunology

Published: April 28, 2012

Showing 1-12 of 13

Last Updated: 09/26/2026