Søgeresultater - Perazzolo, Camille

Phenotypes in siblings with homozygous mutations of TRAPPC9 and/or MCPH1 support a bifunctional model of MCPH1 af Duerinckx, Sarah, Meuwissen, Marije, Perazzolo, Camille, Desmyter, Laurence, Pirson, Isabelle, Abramowicz, Marc

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Severe congenital microcephaly with AP4M1 mutation, a case report af Duerinckx, Sarah, Verhelst, Helene, Perazzolo, Camille, David, Philippe, Desmyter, Laurence, Pirson, Isabelle, Abramowicz, Marc

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FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly af Simonis, Nicolas, Migeotte, Isabelle, Lambert, Nelle, Perazzolo, Camille, de Silva, Deepthi C, Dimitrov, Boyan, Heinrichs, Claudine, Janssens, Sandra, Kerr, Bronwyn, Mortier, Geert, Van Vliet, Guy, Lepage, Philippe, Casimir, Georges, Abramowicz, Marc, Smits, Guillaume, Vilain, Catheline

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Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways af Duerinckx, Sarah, Jacquemin, Valérie, Drunat, Séverine, Vial, Yoann, Passemard, Sandrine, Perazzolo, Camille, Massart, Annick, Soblet, Julie, Racapé, Judith, Desmyter, Laurence, Badoer, Cindy, Papadimitriou, Sofia, Le Borgne, Yann‐Aël, Lefort, Anne, Libert, Frédérick, De Maertelaer, Viviane, Rooman, Marianne, Costagliola, Sabine, Verloes, Alain, Lenaerts, Tom, Pirson, Isabelle, Abramowicz, Marc

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Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy af 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, Mortier, Geert, Nassogne, Marie‐Cécile, 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

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