Researcher
Mala Isrie
- Disciplines:Genetics, Systems biology, Molecular and cell biology
Affiliations
- Laboratory for Genetics of Cognition (Division)
Member
From1 Sep 2010 → 31 Dec 2016
Publications
1 - 10 of 12
- Discovery of Novel Genes for Intellectual Disability and Multiple Congenital Anomalies in the Next Generation Sequencing Era(2016)
Authors: Mala Isrie, Hilde Van Esch, Joris Vermeesch, Koenraad Devriendt
Number of pages: 159 - Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes(2016)
Authors: Mala Isrie, Philippe Moerman, Hilde Van Esch
Pages: 608 - 615 - Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy(2016)
Authors: Aleksandra Siekierska, Mala Isrie, Chloë Scheldeman, Niels Vanthillo, Lieven Lagae, Peter de Witte, Hilde Van Esch, Gunnar Buyse
Pages: 2162 - 2170 - Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type(2015)
Authors: Mala Isrie, Francesca Cristofoli, Alejandro Sifrim, Joris Vermeesch, Hilde Van Esch
Pages: 790 - 800 - Homozygous missense mutation in STYXL1 associated with moderate intellectual disability, epilepsy and behavioural complexities(2015)
Authors: Mala Isrie, Masoud Zamani Esteki, Hilde Peeters, Thierry Voet, Jeroen Van Houdt, Wim Van Paesschen, Hilde Van Esch
Pages: 205 - 10 - Homozygous missense mutation in STYXL1 associated with moderate intellectual disability, epilepsy and behavioural complexities(2015)
Authors: Mala Isrie, Masoud Zamani Esteki, Hilde Peeters, Thierry Voet, Jeroen Van Houdt, Wim Van Paesschen, Hilde Van Esch
Pages: 205 - 10 - Pseudoautosomal Region 1 length polymorphism in the human population(2014)
Authors: Matthew Hestand, Maarten Larmuseau, Mala Isrie, Erika Souche, Jeroen Van Houdt, Hilde Van Esch, Koenraad Devriendt, Thierry Voet, Ronny Decorte, Joris Vermeesch
- Isolated terminal limb reduction defects: Extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations(2014)
Authors: Mala Isrie, Hilde Van Esch, Koenraad Devriendt
Pages: 1576 - 9 - Isolated terminal limb reduction defects: Extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations(2014)
Authors: Mala Isrie, Wim Wuyts, Hilde Van Esch, Koenraad Devriendt
Pages: 1576 - 9 - HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability(2013)
Authors: Mala Isrie, Nathalie Fieremans, Hilde Van Esch, Koenraad Devriendt
Pages: 379 - 82