Banan Younes-Al

Riyadh, Saudi Arabia

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 11 publications

Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways.

Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways.

Journal: Omics : a journal of integrative biology

Published: February 28, 2020

Correction to: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.

Correction to: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.

Journal: Human genomics

Published: December 10, 2017

Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.

Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.

Journal: Human genomics

Published: August 30, 2017

Identification of a novel genetic locus underlying tremor and dystonia.

Identification of a novel genetic locus underlying tremor and dystonia.

Journal: Human genomics

Published: June 03, 2017

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.

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

Published: May 18, 2015

Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome.

Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome.

Journal: Journal of pediatric gastroenterology and nutrition

Published: February 26, 2015

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

Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis.

Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis.

Journal: Arthritis & rheumatology (Hoboken, N.J.)

Published: June 25, 2014

METTL23, a transcriptional partner of GABPA, is essential for human cognition.

METTL23, a transcriptional partner of GABPA, is essential for human cognition.

Journal: Human molecular genetics

Published: February 07, 2014

Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome.

Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome.

Journal: Neuromuscular disorders : NMD

Published: September 08, 2013

Clinical and biochemical features associated with BCS1L mutation.

Clinical and biochemical features associated with BCS1L mutation.

Journal: Journal of inherited metabolic disease

Published: May 08, 2012

Showing 1-11 of 11

Last Updated: 09/26/2026