Ghent University Academic Bibliography

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Your filters: cql: author="Devriendt, Koenraad" or (type any "bookEditor issueEditor" and editor="Devriendt, Koenraad")

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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. 23(6). p.1137-1142
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Performance and diagnostic value of genome-wide noninvasive prenatal testing in multiple gestations

Margot van Riel, Nathalie Brison, Machteld Baetens (UGent) , Bettina Blaumeiser, Francois Boemer, Laura Bourlard, Saskia Bulk, Anne De Leener, Julie Desir, Koenraad Devriendt, et al.

(2021) OBSTETRICS AND GYNECOLOGY. 137(6). p.1102-1108
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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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- Miscellaneous
- open access
Arterial tortuosity syndrome : 40 new families and literature review (vol 20, pg 1236, 2017)

Aude Beyens (UGent) , Juliette Albuisson, Annekatrien Boel (UGent) , Mazen Al-Essa, Waheed Al-Manea, Damien Bonnet, Ozlem Bostan, Odile Boute, Tiffany Busa, Nathalie Canham, et al.

(2019) GENETICS IN MEDICINE. 21(8). p.1894-1895
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- Journal Article
- A1
- open access
Large expert-curated database for benchmarking document similarity detection in biomedical literature search

Peter Brown, Aik-Choon Tan, Mohamed A. El-Esawi, Thomas Liehr, Oliver Blanck, Douglas P. Gladue, Gabriel M. F. Almeida, Tomislav Cernava, Carlos O. Sorzano, Andy W. K. Yeung, et al.

(2019) DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION.
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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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Arterial tortuosity syndrome : 40 new families and literature review

Aude Beyens (UGent) , Juliette Albuisson, Annekatrien Boel (UGent) , Mazen Al-Essa, Waheed Al-Manea, Damien Bonnet, Ozlem Bostan, Odile Boute, Tiffany Busa, Nathalie Canham, et al.

(2018) GENETICS IN MEDICINE. 20(10). p.1236-1245
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- Journal Article
- A1
- open access
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

Ivan Ivanovski, Olivera Djuric, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Simonetta Rosato, Duccio Maria Cordelli, Ebtesam Abdalla, Patrizia Accorsi, Margaret P Adam, et al.

(2018) GENETICS IN MEDICINE. 20(9). p.965-975
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- Journal Article
- A1
- open access
ACTB loss-of-function mutations result in a pleiotropic developmental disorder

Sara Cuvertino, Helen M Stuart, Kate E Chandler, Neil A Roberts, Ruth Armstrong, Laura Bernardini, Sanjeev Bhaskar, Bert Callewaert (UGent) , Jill Clayton-Smith, Cristina Hernando Davalillo, et al.

(2017) AMERICAN JOURNAL OF HUMAN GENETICS. 101(6). p.1021-1033

Academic Bibliography

Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

Performance and diagnostic value of genome-wide noninvasive prenatal testing in multiple gestations

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

Arterial tortuosity syndrome : 40 new families and literature review (vol 20, pg 1236, 2017)

Large expert-curated database for benchmarking document similarity detection in biomedical literature search

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

Arterial tortuosity syndrome : 40 new families and literature review

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

ACTB loss-of-function mutations result in a pleiotropic developmental disorder

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