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Displaying 10 results.
    • Journal article
    Eight further individuals with intellectual disability and epilepsy carrying bi-allelicCNTNAP2aberrations allow delineation of the mutational and phenotypic spectrum
    Smogavec, Mateja Cleall, Alison Hoyer, Juliane Lederer, Damien Nassogne, Marie-Cécile[UCL] Palmer, Elizabeth E Deprez, Marie Benoit, Valérie Maystadt, Isabelle Noakes, Charlotte Leal, Alejandro Shaw, Marie Gecz, Jozef Raymond, Lucy Reis, André Shears, Deborah Brockmann, Knut Zweier, Christiane (2016) Journal of Medical Genetics — Vol. 53, no. 12, p. 820-827 (2016)
    • Journal article
    Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome.
    Belge, Hendrica[UCL] Dahan, Karin Cambier, Jean-François Benoit, Valérie Morelle, Johann[UCL] Bloch, Julie Vanhille, Philippe Pirson, Yves[UCL] Demoulin, Nathalie[UCL] (2017) Nephrology, Dialysis, Transplantation — Vol. 32, no. 5, p. 830-837 (2017)
    • Journal article
    FOXP1 -related intellectual disability syndrome: a recognisable entity
    Meerschaut, Ilse Rochefort, Daniel Revencu, Nicole[UCL] Pètre, Justine Corsello, Christina Rouleau, Guy A Hamdan, Fadi F Michaud, Jacques L Morton, Jenny Radley, Jessica Ragge, Nicola García-Miñaúr, Sixto Lapunzina, Pablo Bralo, Maria Palomares Mori, Maria Ángeles Moortgat, Stéphanie Benoit, Valérie Mary, Sandrine Bockaert, Nele Oostra, Ann Vanakker, Olivier Velinov, Milen de Ravel, Thomy JL Mekahli, Djalila Sebat, Jonathan Vaux, Keith K DiDonato, Nataliya Hanson-Kahn, Andrea K Hudgins, Louanne Dallapiccola, Bruno Novelli, Antonio Tarani, Luigi Andrieux, Joris Parker, Michael J Neas, Katherine Ceulemans, Berten Schoonjans, An-Sofie Prchalova, Darina Havlovicova, Marketa Hancarova, Miroslava Budisteanu, Magdalena Dheedene, Annelies Menten, Björn Dion, Patrick A Lederer, Damien Callewaert, Bert (2017) Journal of Medical Genetics — Vol. 54, no.9, p. 613-623 (2017)
    • Journal article
    Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with kabuki syndrome
    Lederer, Damien Grisart, Bernard Digilio, Maria Cristina Benoit, Valérie Crespin, Marianne Ghariani, Sophie Claire Maystadt, Isabelle Dallapiccola, Bruno Dumoulin, Christine[UCL] (2012) American Journal of Human Genetics — Vol. 90, no. 1, p. 119-124 (2012)
    • Journal article
    Uncommon Leber "plus" disease associated with mitochondrial mutation m.11778G>A in a premature child
    Paquay, Stéphanie[UCL] Benoit, Valérie Wetzburger, Catherine Cordonnier, Monique Meire, Françoise Charon, Anne Roland, Dominique Coster, Rudy Van Nassogne, Marie-Cécile[UCL] Maystadt, Isabelle (2014) Journal of Child Neurology — Vol. 29, no. 8, p. NP18-NP23 (2014)
    • Journal article
    Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia
    Moortgat, Stéphanie Lederer, Damien Deprez, Marie Buzatu, Marga Clapuyt, Philippe[UCL] Boulanger, Sébastien Benoit, Valérie Mary, Sandrine Guichet, Agnès Ziegler, Alban Colin, Estelle Bonneau, Dominique Maystadt, Isabelle (2018) European Journal of Medical Genetics — Vol. 61, no. 8, p. 442-450 (2018)
    • Journal article
    Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.
    Moortgat, Stéphanie Désir, Julie Benoit, Valérie Boulanger, Sébastien Pendeville, Hélène Nassogne, Marie-Cécile[UCL] Lederer, Damien Maystadt, Isabelle (2016) American Journal of Medical Genetics. Part A — Vol. 170, no.11, p. 2927-2933 (2016)
    • Speech
    Uncommon Leber "plus" disease associated with mitochondrial m.11778G>A mutation in a premature child
    Paquay, Stéphanie[UCL] Benoit, Valérie Wetzburger, Catherine Cordonnier, Monique Meire, Françoise Charon, Anne Roland, Dominique Van Coster, Rudy Nassogne, Marie-Cécile[UCL] Maystadt, Isabelle (2013) Belgian Society of Pediatric Neurology — Luxembourg
    • Journal article
    Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers.
    Lantoine, Joséphine Brysse, Anne Dideberg, Vinciane Claes, Kathleen Symoens, Sofie Coucke, Wim Benoit, Valérie Rombout, Sonia De Rycke, Martine Seneca, Sara Van Laer, Lut Wuyts, Wim Corveleyn, Anniek Van Den Bogaert, Kris Rydlewski, Catherine Wilkin, Françoise Ravoet, Marie[UCL] Fastré, Elodie[UCL] Capron, Arnaud Vandevelde, Nathalie Monique (2021) JMIR medical informatics — Vol. 9, no.7, p. e27980 [1-10] (2021)
    • Journal article
    Antenatal diagnosis of CHARGE syndrome: Prenatal ultrasound findings and crucial role of fetal dysmorphic signs. About a series of 10 cases and review of literature.
    Biard, Jean-Marc[UCL] Payrat, Stéphanie[UCL] Clapuyt, Philippe[UCL] Barréa, Catherine[UCL] Benoit, Valérie Baldin, Paméla[UCL] Bernard, Pierre[UCL] Van Grambezen, Bénédicte[UCL] Sznajer, Yves[UCL] (2021) European journal of medical genetics — Vol. 64, no. 4, p. 104189 [1-10] (2021)