Ghent University Academic Bibliography

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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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- Journal Article
- A1
- open access
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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Prenatally detected copy number variants in a national cohort : a postnatal follow-up study

Joke Muys, Yves Jacquemyn, Bettina Blaumeiser, Laura Bourlard, Nathalie Brison, Saskia Bulk, Patrizia Chiarappa, Anne De Leener, Marjan De Rademaeker, Julie Desir, et al.

(2020) PRENATAL DIAGNOSIS. 40(10). p.1272-1283
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A clinical scoring system for congenital contractural arachnodactyly

Ilse Meerschaut (UGent) , Shana De Coninck (UGent) , Wouter Steyaert (UGent) , Angela Barnicoat, Allan Bayat, Francesco Benedicenti, Siren Berland, Edward M. Blair, Jeroen Breckpot, Anna de Burca, et al.

(2020) GENETICS IN MEDICINE. 22(1). p.124-131
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The Belgian MicroArray Prenatal (BEMAPRE) database : a systematic nationwide repository of fetal genomic aberrations

Joke Muys, Bettina Blaumeiser, Yves Jacquemyn, Claude Bandelier, Nathalie Brison, Saskia Bulk, Patrizia Chiarappa, Winnie Courtens, Anne De Leener, Marjan De Rademaeker, et al.

(2018) PRENATAL DIAGNOSIS. 38(13). p.1120-1128
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Role of CGH array in the diagnosis of autosomal recessive disease : a case of Ellis-van Creveld syndrome

Valentina D'Ambrosio, Carmela Votino, Teresa Cos, Sebastien Boulanger, Annelies Dheedene (UGent) , Jacques Jani and Kathelijn Keymolen

(2015) PRENATAL DIAGNOSIS. 35(1). p.97-99
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A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors

Paul Daniel Brady, BARBARA DELLE CHIAIE (UGent) , Gabrielle Christenhusz, Kris Dierickx, Kris Van Den Bogaert, Björn Menten (UGent) , Sandra Janssens (UGent) , Paul Defoort, Ellen Roets (UGent) , Elke Sleurs (UGent) , et al.

(2014) GENETICS IN MEDICINE. 16(6). p.469-476
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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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Late onset painful cold-aggravated myotonia : three families with SCN4A L1436P mutation

Veronique Bissay, Kathelijn Keymolen, Willy Lissens, Guy Laureys (UGent) , Eric Schmedding and Jacques De Keyser

(2011) NEUROMUSCULAR DISORDERS. 21(8). p.590-593
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Floating harbor syndrome associated with middle ear abnormalities

Jan-Jaap Hendrickx, Kathelijn Keymolen, Brigitte Desprechins, Jan Casselman (UGent) and Frans Gordts

(2010) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 152A(1). p.161-164

Academic Bibliography

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

Prenatally detected copy number variants in a national cohort : a postnatal follow-up study

A clinical scoring system for congenital contractural arachnodactyly

The Belgian MicroArray Prenatal (BEMAPRE) database : a systematic nationwide repository of fetal genomic aberrations

Role of CGH array in the diagnosis of autosomal recessive disease : a case of Ellis-van Creveld syndrome

A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors

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

Late onset painful cold-aggravated myotonia : three families with SCN4A L1436P mutation

Floating harbor syndrome associated with middle ear abnormalities

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