Mala Isrie

Leuven, VLG, Belgium

Last Updated: 09/26/2026

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Found 10 publications

Myotonic dystrophy presenting as severely dilated cardiomyopathy with out-of-hospital cardiac arrest.

Myotonic dystrophy presenting as severely dilated cardiomyopathy with out-of-hospital cardiac arrest.

Journal: Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation

Published: November 29, 2018

Phenotypes and genotypes in individuals with SMC1A variants.

Phenotypes and genotypes in individuals with SMC1A variants.

Journal: American journal of medical genetics. Part A

Published: January 11, 2017

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.

Journal: Journal of medical genetics

Published: February 10, 2016

Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy.

Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy.

Journal: Neurology

Published: January 06, 2016

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.

Journal: American journal of human genetics

Published: June 11, 2015

Homozygous missense mutation in STYXL1 associated with moderate intellectual disability, epilepsy and behavioural complexities.

Homozygous missense mutation in STYXL1 associated with moderate intellectual disability, epilepsy and behavioural complexities.

Journal: European journal of medical genetics

Published: September 03, 2014

Pseudoautosomal region 1 length polymorphism in the human population.

Pseudoautosomal region 1 length polymorphism in the human population.

Journal: PLoS genetics

Published: January 06, 2014

Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations.

Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations.

Journal: American journal of medical genetics. Part A

Published: December 12, 2013

HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability.

HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability.

Journal: European journal of medical genetics

Published: March 02, 2013

Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants.

Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants.

Journal: European journal of medical genetics

Published: February 17, 2012

Showing 1-10 of 10

Last Updated: 09/26/2026