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Displaying 3 results.
    • Journal article
    Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory.
    Dheedene, Annelies Sante, Tom De Smet, Matthias Vanbellinghen, Jean-François[UCL] Grisart, Bernard Vergult, Sarah Janssens, Sandra Menten, Björn (2016) Prenatal Diagnosis — Vol. 36, no.8, p. 699-707 (2016)
    • 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
    Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.
    Pérez Baca, María Del Rocío Jacobs, Eva Z Vantomme, Lies Leblanc, Pontus Bogaert, Elke Dheedene, Annelies De Cock, Laurenz Haghshenas, Sadegheh Foroutan, Aidin Levy, Michael A Kerkhof, Jennifer McConkey, Haley Chen, Chun-An Batzir, Nurit Assia Wang, Xia Palomares, María Carels, Marieke ZFHX3 consortium Dermaut, Bart Sadikovic, Bekim Menten, Björn Yuan, Bo Vergult, Sarah Callewaert, Bert Lysy, Philippe[UCL] (2024) American journal of human genetics — Vol. 111, no.3, p. 509-528 (2024)