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Displaying 3 results.
    • Journal article
    Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients.
    Vergult, Sarah Hoogeboom, A Jeannette M Bijlsma, Emilia K Sante, Tom Klopocki, Eva De Wilde, Bram Jongmans, Marjolijn Thiel, Christian Verheij, Joke B G M Perez-Aytes, Antonio Van Esch, Hilde Kuechler, Alma Barge-Schaapveld, Daniela Q C M Sznajer, Yves[UCL] Mortier, Geert Menten, Björn (2013) Genetics in Medicine — Vol. 15, no.3, p. 195-202 (2013)
    • Journal article
    Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
    Duerinckx, Sarah Désir, Julie Perazzolo, Camille Badoer, Cindy Jacquemin, Valérie Soblet, Julie Maystadt, Isabelle Tunca, Yusuf Blaumeiser, Bettina Ceulemans, Berten Courtens, Winnie Debray, François-Guillaume Destree, Anne Devriendt, Koenraad Jansen, Anna Keymolen, Kathelijn Lederer, Damien Loeys, Bart Meuwissen, Marije Moortgat, Stéphanie[UCL] Mortier, Geert Nassogne, Marie-Cécile[UCL] Sekhara, Tayeb Van Coster, Rudy Van Den Ende, Jenny Van der Aa, Nathalie Van Esch, Hilde Vanakker, Olivier Verhelst, Helene Vilain, Catheline Weckhuysen, Sarah Passemard, Sandrine Verloes, Alain Aeby, Alec Deconinck, Nicolas Van Bogaert, Patrick Pirson, Isabelle Abramowicz, Marc (2021) Molecular genetics & genomic medicine — Vol. 9, no. 9, p. e1768 [1-19] (2021)
    • Journal article
    No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
    Schlögel, Matthieu[UCL] Mendola, Antonella[UCL] Fastre, Elodie[UCL] Vasudevan, Pradeep Devriendt, Koen de Ravel, Thomy Jl Van Esch, Hilde Casteels, Ingele Arroyo Carrera, Ignacio Cristofoli, Francesca Fieggen, Karen Jones, Katheryn Lipson, Mark Balikova, Irina Singer, Ami Soller, Maria Mercedes Villanueva, María Revencu, Nicole[UCL] Boon, Laurence M.[UCL] Brouillard, Pascal[UCL] Vikkula, Miikka[UCL] (2015) Orphanet Journal of Rare Diseases — Vol. 10, no. 1, p. 52 (2015)