Reproduction, Smell and Neurodevelopmental disorders: Genetic defects in different hypogonadotropic hypogonadal syndromes. by Hernan G VALDES-SOCIN, Matilde eRUBIO ALMANZA, Mariana eTOME FERNANDEZ-LADREDA, François Guillaume DEBRAY, Vincent eBOURS, Albert eBeckers

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Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy by François Boemer, Claire Josse, Géraldine Luis, Emmanuel Di Valentin, Jérôme Thiry, Christophe Cello, Jean-Hubert Caberg, Caroline Dadoumont, Julie Harvengt, Aimé Lumaka, Vincent Bours, François-Guillaume Debray

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Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease by Julie Harvengt, Catherine Wanty, Boel De Paepe, Christine Sempoux, Nicole Revencu, Joél Smet, Rudy Van Coster, Willy Lissens, Sara Seneca, Laurent Weekers, Etienne Sokal, François-Guillaume Debray

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Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours by Aimé Lumaka, Corinne Fasquelle, Francois-Guillaume Debray, Serpil Alkan, Adeline Jacquinet, Julie Harvengt, François Boemer, André Mulder, Sandrine Vaessen, Renaud Viellevoye, Leonor Palmeira, Benoit Charloteaux, Anne Brysse, Saskia Bulk, Vincent Rigo, Vincent Bours

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Kidney and vascular function in adult patients with hereditary fructose intolerance by Nynke Simons, François-Guillaume Debray, Nicolaas C. Schaper, Edith J.M. Feskens, Carla E.M. Hollak, Judith A.P. Bons, Jörgen Bierau, Alfons J.H.M. Houben, Casper G. Schalkwijk, Coen D.A. Stehouwer, David Cassiman, Martijn C.G.J. Brouwers

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Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy by 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, Stéphanie 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

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Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders by Estelle Colin, Estelle Colin, Yannis Duffourd, Martin Chevarin, Martin Chevarin, Emilie Tisserant, Simon Verdez, Julien Paccaud, Ange-Line Bruel, Ange-Line Bruel, Frédéric Tran Mau-Them, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Anne-Sophie Denommé-Pichon, Julien Thevenon, Hana Safraou, Hana Safraou, Thomas Besnard, Thomas Besnard, Alice Goldenberg, Alice Goldenberg, Benjamin Cogné, Benjamin Cogné, Bertrand Isidor, Julian Delanne, Julian Delanne, Arthur Sorlin, Arthur Sorlin, Sébastien Moutton, Sébastien Moutton, Mélanie Fradin, Christèle Dubourg, Christèle Dubourg, Magali Gorce, Dominique Bonneau, Salima El Chehadeh, François-Guillaume Debray, Martine Doco-Fenzy, Martine Doco-Fenzy, Kevin Uguen, Kevin Uguen, Nicolas Chatron, Bernard Aral, Nathalie Marle, Paul Kuentz, Paul Kuentz, Anne Boland, Robert Olaso, Robert Olaso, Jean-François Deleuze, Jean-François Deleuze, Damien Sanlaville, Patrick Callier, Patrick Callier, Christophe Philippe, Christophe Philippe, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Laurence Faivre, Laurence Faivre, Antonio Vitobello, Antonio Vitobello

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