Publications by authors named "Mala Isrie"

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Phenotypes and genotypes in individuals with SMC1A variants.
Sylvia Huisman, Paul A Mulder, Egbert Redeker, Ingrid Bader, Anne-Marie Bisgaard, Mala Isrie

Am J Med Genet A· August 2017

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Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.
Susanne Roosing, Marta Romani, Mala Isrie, Rasim Ozgur Rosti, Alessia Micalizzi

J Med Genet· September 2016

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Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy.
Aleksandra Siekierska, Mala Isrie, Yue Liu, Chloë Scheldeman, Niels Vanthillo

Neurology· June 2016

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Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.
Mala Isrie, Martin Breuss, Guoling Tian, Andi Harley Hansen, Francesca Cristofoli

Am J Hum Genet· December 2015

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Homozygous missense mutation in STYXL1 associated with moderate intellectual disability, epilepsy and behavioural complexities.
Mala Isrie, Masoud Zamani Esteki, Hilde Peeters, Thierry Voet, Jeroen Van Houdt

Eur J Med Genet· April 2015

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Pseudoautosomal region 1 length polymorphism in the human population.
Martin A Mensah, Matthew S Hestand, Maarten H D Larmuseau, Mala Isrie, Nancy Vanderheyden

PLoS Genet· November 2014

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Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations.
Mala Isrie, Wim Wuyts, Hilde Van Esch, Koenraad Devriendt

Am J Med Genet A· June 2014

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HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability.
Mala Isrie, Vera M Kalscheuer, Maureen Holvoet, Nathalie Fieremans, Hilde Van Esch

Eur J Med Genet· July 2013

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Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms.
Mala Isrie, Yvonne Hendriks, Nicole Gielissen, Erik A Sistermans, Marjolein H Willemsen

Eur J Hum Genet· February 2012

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