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Catheline Vilain

Showing results (41-50 of 58) with videos related to

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Human Mutation|April 28, 2012
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesisMathilde Nizon, Céline Huber, Fabio De Leonardis, et al.
Ebiomedicine|August 31, 2024
Collagen IV deficiency causes hypertrophic remodeling and endothelium-dependent hyperpolarization in small vessel disease with intracerebral hemorrhageSarah McNeilly, Cameron R Thomson, Laura Gonzalez-Trueba, et al.
European Journal of Medical Genetics|February 19, 2014
Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challengesOlivier Vanakker, Catheline Vilain, Katrien Janssens, et al.
European Journal of Human Genetics : EJHG|September 24, 2015
Mosaic parental germline mutations causing recurrent forms of malformations of cortical developmentJulia Lauer Zillhardt, Karine Poirier, Loïc Broix, et al.
European Journal of Medical Genetics|July 1, 2025
Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disordersSebastian Neuens, Julie Soblet, Aurelie Penninckx, et al.
Molecular Genetics & Genomic Medicine|August 17, 2021
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsySarah Duerinckx, Julie Désir, Camille Perazzolo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohortsMartina Marangoni, Guillaume Smits, Gilles Ceysens, et al.
Human Molecular Genetics|August 3, 2013
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodelingDagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 19, 2026
International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging PerspectivesLaia Nou-Fontanet, Claudia Ravelli, Lydie Burglen, et al.
Human Mutation|September 17, 2013
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformationNicole Revencu, Laurence M Boon, Antonella Mendola, et al.
Pageof 6

Showing results (41-50 of 58) with videos related to

Sort By:
Pageof 6
Human Mutation|April 28, 2012
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesisMathilde Nizon, Céline Huber, Fabio De Leonardis, et al.
Ebiomedicine|August 31, 2024
Collagen IV deficiency causes hypertrophic remodeling and endothelium-dependent hyperpolarization in small vessel disease with intracerebral hemorrhageSarah McNeilly, Cameron R Thomson, Laura Gonzalez-Trueba, et al.
European Journal of Medical Genetics|February 19, 2014
Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challengesOlivier Vanakker, Catheline Vilain, Katrien Janssens, et al.
European Journal of Human Genetics : EJHG|September 24, 2015
Mosaic parental germline mutations causing recurrent forms of malformations of cortical developmentJulia Lauer Zillhardt, Karine Poirier, Loïc Broix, et al.
European Journal of Medical Genetics|July 1, 2025
Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disordersSebastian Neuens, Julie Soblet, Aurelie Penninckx, et al.
Molecular Genetics & Genomic Medicine|August 17, 2021
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsySarah Duerinckx, Julie Désir, Camille Perazzolo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohortsMartina Marangoni, Guillaume Smits, Gilles Ceysens, et al.
Human Molecular Genetics|August 3, 2013
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodelingDagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 19, 2026
International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging PerspectivesLaia Nou-Fontanet, Claudia Ravelli, Lydie Burglen, et al.
Human Mutation|September 17, 2013
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformationNicole Revencu, Laurence M Boon, Antonella Mendola, et al.
Pageof 6