Lihadh Gazali-Al

Albania

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 9 publications

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

Journal: Brain : a journal of neurology

Published: January 27, 2023

Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.

Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.

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

Published: March 24, 2020

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.

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

Published: October 30, 2019

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Journal: Genome medicine

Published: March 15, 2019

Further Delineation of the Microcephaly-Micromelia Syndrome Associated with Loss-of-Function Variants in DONSON.

Further Delineation of the Microcephaly-Micromelia Syndrome Associated with Loss-of-Function Variants in DONSON.

Journal: Molecular syndromology

Published: January 10, 2019

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Journal: Genome medicine

Published: October 27, 2018

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.

Journal: Brain : a journal of neurology

Published: February 27, 2016

A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development.

A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development.

Journal: Brain : a journal of neurology

Published: January 09, 2015

An integrative computational approach for prioritization of genomic variants.

An integrative computational approach for prioritization of genomic variants.

Journal: PloS one

Published: July 01, 2014

Showing 1-9 of 9

Last Updated: 09/26/2026