Ghent University Academic Bibliography

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Missing heritability in Bloom syndrome : first report of a deep intronic variant leading to pseudo‐exon activation in the BLM gene

Lynn Backers (UGent) , Bram Parton (UGent) , Marieke De Bruyne (UGent) , Simon Tavernier (UGent) , Kris Van Den Bogaert, Bart Lambrecht (UGent) , Filomeen Haerynck (UGent) and Kathleen Claes (UGent)

(2021) CLINICAL GENETICS. 99(2). p.292-297
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- Conference Paper
- C3
Missing heritability in Bloom syndrome : First report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene

Lynn Backers (UGent) , Bram Parton (UGent) , Marieke De Bruyne (UGent) , Simon Tavernier (UGent) , Kris Van Den Bogaert, Bart Lambrecht (UGent) , Filomeen Haerynck (UGent) and Kathleen Claes (UGent)

(2021) Research Day, Abstracts.
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- Journal Article
- open access
Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

Kris Van den Bogaert, Lore Lannoo, Nathalie Brison, Vincent Gatinois, Machteld Baetens (UGent) , Bettina Blaumeiser, Francois Boemer, Laura Bourlard, Vincent Bours, Anne De Leener, et al.

(2021) GENETICS IN MEDICINE.
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- Conference Paper
- C3
Missing heritability in Bloom syndrome : first report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene

Lynn Backers (UGent) , Bram Parton (UGent) , Marieke De Bruyne (UGent) , Simon Tavernier, Kris Van Den Bogaert, Bart Lambrecht (UGent) , Filomeen Haerynck (UGent) and Kathleen Claes (UGent)

(2020) 19th Biennial Meeting of The European Society of Immunodeficiencies (ESID 2020), Abstracts.
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- Conference Paper
- C3
Missing heritability in Bloom syndrome : first report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene

Lynn Backers (UGent) , Bram Parton (UGent) , Marieke De Bruyne (UGent) , Simon Tavernier (UGent) , Kris Van Den Bogaert, Bart Lambrecht (UGent) , Filomeen Haerynck (UGent) and Kathleen Claes (UGent)

(2020) RARE-MED Kick-Off Symposium, Abstracts.
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- Conference Paper
- C3
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) Belgian Society for Human Genetics, 20th Annual meeting, Abstracts.
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- Conference Paper
- C3
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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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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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

Missing heritability in Bloom syndrome : first report of a deep intronic variant leading to pseudo‐exon activation in the BLM gene

Missing heritability in Bloom syndrome : First report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene

Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

Missing heritability in Bloom syndrome : first report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene

Missing heritability in Bloom syndrome : first report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene

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

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

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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