Sarah Duerinckx

ORCID

Publication Activity (10 Years)

Years Active: 2017-2021
Publications (10 Years): 5

Top Venues

Molecular genetics & genomic medicine

Human mutation

BMC medical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Asma Sassi, Julie Désir, Sarah Duerinckx, Julie Soblet, Sonia Van Dooren, Maryse Bonduelle, Marc Abramowicz, Anne Delbaere
Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea. Molecular genetics & genomic medicine 9 (10) (2021)
Sarah Duerinckx, Julie Désir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Julie Soblet, Isabelle Maystadt, Yusuf Tunca, Bettina Blaumeiser, Berten Ceulemans, Winnie Courtens, François-Guillaume Debray, Anne Destree, Koenraad Devriendt, Anna Jansen, Kathelijn Keymolen, Damien Lederer, Bart Loeys, Marije Meuwissen, Stephanie Moortgat, Geert Mortier, Marie-Cécile Nassogne, Tayeb Sekhara, Rudy Van Coster, Jenny Van Den Ende, Nathalie Van der Aa, Hilde Van Esch, Olivier Vanakker, Helene Verhelst, Catheline Vilain, Sarah Weckhuysen, Sandrine Passemard, Alain Verloes, Alec Aeby, Nicolas Deconinck, Patrick Van Bogaert, Isabelle Pirson, Marc Abramowicz
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy. Molecular genetics & genomic medicine 9 (9) (2021)
Sarah Duerinckx, Valérie Jacquemin, Séverine Drunat, Yoann Vial, Sandrine Passemard, Camille Perazzolo, Annick Massart, Julie Soblet, Judith Racapé, Laurence Desmyter, Cindy Badoer, Sofia Papadimitriou, Yann-Aël Le Borgne, Anne Lefort, Frédérick Libert, Viviane De Maertelaer, Marianne Rooman, Sabine Costagliola, Alain Verloes, Tom Lenaerts, Isabelle Pirson, Marc Abramowicz
Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways. Human mutation 41 (2) (2019)
Sarah Duerinckx, Marije Meuwissen, Camille Perazzolo, Laurence Desmyter, Isabelle Pirson, Marc Abramowicz
Phenotypes in siblings with homozygous mutations of TRAPPC9 and/or MCPH1 support a bifunctional model of MCPH1. Molecular genetics & genomic medicine (2018)
Sarah Duerinckx, Helene Verhelst, Camille Perazzolo, Philippe David, Laurence Desmyter, Isabelle Pirson, Marc Abramowicz
Severe congenital microcephaly with AP4M1 mutation, a case report. BMC medical genetics 18 (1) (2017)

Sarah Duerinckx.css-eqlu8i{font-size:small;padding-left:4px;}

Publication Activity (10 Years)

Top Topics

Top Venues

Sarah Duerinckx