Ermal Aliu

Pediatrics | Medical Genetics

4709 Creekstone Dr
Suite 300
Durham, NC 27703

Last Updated: 09/26/2026

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Found 16 publications

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Journal: American journal of human genetics

Published: October 19, 2025

Arterial Tortuosity Syndrome: Keys to Early Diagnosis and Report of a New Mutation.

Arterial Tortuosity Syndrome: Keys to Early Diagnosis and Report of a New Mutation.

Journal: CASE (Philadelphia, Pa.)

Published: March 03, 2025

A Novel Homozygous Variant in the CHRNE Gene in 2 Siblings with Congenital Myasthenic Syndrome.

A Novel Homozygous Variant in the CHRNE Gene in 2 Siblings with Congenital Myasthenic Syndrome.

Journal: Child neurology open

Published: August 15, 2023

Messenger RNA rescues medium-chain acyl-CoA dehydrogenase deficiency in fibroblasts from patients and a murine model.

Messenger RNA rescues medium-chain acyl-CoA dehydrogenase deficiency in fibroblasts from patients and a murine model.

Journal: Human molecular genetics

Published: February 28, 2023

Synthetic mRNA rescues very long-chain acyl-CoA dehydrogenase deficiency in patient fibroblasts and a murine model.

Synthetic mRNA rescues very long-chain acyl-CoA dehydrogenase deficiency in patient fibroblasts and a murine model.

Journal: Molecular genetics and metabolism

Published: December 21, 2022

Ocular manifestations in a 2 year-old patient with a DYNC1H1 mutation.

Ocular manifestations in a 2 year-old patient with a DYNC1H1 mutation.

Journal: Ophthalmic genetics

Published: December 20, 2022

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Journal: American journal of human genetics

Published: November 23, 2022

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

Journal: JAMA neurology

Published: October 31, 2022

A Case of Congenital Hypotonia and Developmental Delay in an Individual with a De Novo Variant Outside of the Canonical HX-Motif of ATN1.

A Case of Congenital Hypotonia and Developmental Delay in an Individual with a De Novo Variant Outside of the Canonical HX-Motif of ATN1.

Journal: Case reports in genetics

Published: October 19, 2022

A Case of Autosomal Recessive Intellectual Developmental Disorder Type 5 Presenting with Epilepsy.

A Case of Autosomal Recessive Intellectual Developmental Disorder Type 5 Presenting with Epilepsy.

Journal: Case reports in genetics

Published: July 30, 2022

ERI1: A case report of an autosomal recessive syndrome associated with developmental delay and distal limb abnormalities.

ERI1: A case report of an autosomal recessive syndrome associated with developmental delay and distal limb abnormalities.

Journal: American journal of medical genetics. Part A

Published: June 27, 2022

Case report of atypical Leigh syndrome in an adolescent male with novel biallelic variants in NDUFAF5 and review of the natural history of NDUFAF5-related disorders.

Case report of atypical Leigh syndrome in an adolescent male with novel biallelic variants in NDUFAF5 and review of the natural history of NDUFAF5-related disorders.

Journal: American journal of medical genetics. Part A

Published: September 21, 2021

Showing 1-12 of 16

Last Updated: 09/26/2026