Ghent University Academic Bibliography

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Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs)

Edoardo Giuili (UGent) , Robin Grolaux, Catarina Z N M Macedo, Laurence Desmyter, Bruno Pichon, Sebastian Neuens, Catheline Vilain, Catharina Olsen, Sonia Van Dooren, Guillaume Smits, et al.

(2023) HUMAN GENETICS. 142(12). p.1721-1735
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Implementation of fetal clinical exome sequencing : comparing prospective and retrospective cohorts

Martina Marangoni, Guillaume Smits, Gilles Ceysens, Elena Costa, Robert Coulon, Caroline Daelemans, Caroline De Coninck, Sara Derisbourg, Kalina Gajewska, Giulia Garofalo, et al.

(2022) GENETICS IN MEDICINE. 24(2). p.344-363
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Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy

Sarah Duerinckx, Julie Désir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Julie Soblet, Isabelle Maystadt, Yusuf Tunca, Bettina Blaumeiser, Berten Ceulemans, et al.

(2021) MOLECULAR GENETICS & GENOMIC MEDICINE. 9(9).
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IQSEC2-related encephalopathy in males and females : a comparative study including 37 novel patients

Cyril Mignot, Aoife C McMahon, Claire Bar, Philippe M Campeau, Claire Davidson, Julien Buratti, Caroline Nava, Marie-Line Jacquemont, Marilyn Tallot, Mathieu Milh, et al.

(2018) GENETICS IN MEDICINE. 21(4). p.837-849
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A familial heterozygous null mutation of MET in autism spectrum disorder

Nelle Lambert, Vanessa Wermenbol, Bruno Pichon, Sandra Acosta, Jelle van den Ameele (UGent) , Camille Perazzolo, Diana Messina, Maria-Franca Musumeci, Barbara Dessars, Anne De Leener, et al.

(2014) AUTISM RESEARCH. 7(5). p.617-622
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Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges

Olivier Vanakker (UGent) , Catheline Vilain, Katrien Janssens, Nathalie Van der Aa, Guillaume Smits, Claude Bandelier, Bettina Blaumeiser, Saskia Bulk, Jean-Hubert Caberg, Anne De Leener, et al.

(2014) EUROPEAN JOURNAL OF MEDICAL GENETICS. 57(4). p.151-156
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FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

Nicolas Simonis, Isabelle Migeotte, Nelle Lambert, Camille Perazzolo, Deepthi C de Silva, Boyan Dimitrov, Claudine Heinrichs, Sandra Janssens (UGent) , Bronwyn Kerr, Geert Mortier, et al.

(2013) JOURNAL OF MEDICAL GENETICS. 50(9). p.585-592
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Hartsfield Holoprosencephaly-Ectrodactyly Syndrome in Five Male Patients: Further Delineation and Review

Catheline Vilain, Geert Mortier (UGent) , Guy Van Vliet, Christèle Dubourg, Claudine Heinrichs, Deepthi de Silva, Alain Verloes and Clarisse Baumann

(2009) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 149A(7). p.1476-1481

Academic Bibliography

Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs)

Implementation of fetal clinical exome sequencing : comparing prospective and retrospective cohorts

Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy

IQSEC2-related encephalopathy in males and females : a comparative study including 37 novel patients

A familial heterozygous null mutation of MET in autism spectrum disorder

Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

Hartsfield Holoprosencephaly-Ectrodactyly Syndrome in Five Male Patients: Further Delineation and Review

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