Ghent University Academic Bibliography

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- Conference Paper
First patient with bloom syndrome caused by a deep intronic variant leading to pseudoexon activation

Lynn Backers (UGent) , Bram Parton (UGent) , Stephanie Vermeulen (UGent) , Marieke De Bruyne (UGent) , Kris Van Den Bogaert, Anne Vral (UGent) , Ans Baeyens (UGent) , Simon Tavernier (UGent) , Filomeen Haerynck (UGent) and Kathleen Claes (UGent)

(2020)
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- Conference Paper
First patient with bloom syndrome caused by a deep intronic variant leading to pseudoexon activation

Lynn Backers (UGent) , Bram Parton (UGent) , Stephanie Vermeulen (UGent) , Marieke De Bruyne (UGent) , Simon Tavernier (UGent) , Kris Van Den Bogaert, Anne Vral (UGent) , Ans Baeyens (UGent) , Filomeen Haerynck (UGent) , Bart Lambrecht (UGent) , et al.

(2020)
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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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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 (UGent) , 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

Academic Bibliography

First patient with bloom syndrome caused by a deep intronic variant leading to pseudoexon activation

First patient with bloom syndrome caused by a deep intronic variant leading to pseudoexon activation

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

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

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