Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers von Lantoine, Josephine, Brysse, Anne, Dideberg, Vinciane, Claes, Kathleen, Symoens, Sofie, Coucke, Wim, Benoit, Valerie, Rombout, Sonia, De Rycke, Martine, Seneca, Sara, Van Laer, Lut, Wuyts, Wim, Corveleyn, Anniek, Van den Bogaert, Kris, Rydlewski, Catherine, Wilkin, Francoise, Ravoet, Marie, Fastre, Elodie, Capron, Arnaud, Vandevelde, Nathalie Monique

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Mutations of calcium-sensing receptor gene: two novel mutations and overview of impact on calcium homeostasis von Livadariu, Elena, Auriemma, Renata S, Rydlewski, Catherine, Vandeva, Silvia, Hamoir, Etienne, Burlacu, Maria C, Maweja, Sylvie, Thonnard, Anne S, Betea, Daniela, Vassart, Gilbert, Daly, Adrian F, Beckers, Albert

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Autosomal Dominant Resistance to Thyrotropin as a Distinct Entity in Five Multigenerational Kindreds: Clinical Characterization and Exclusion of Candidate Loci von Grasberger, Helmut, Mimouni-Bloch, Aviva, Vantyghem, Marie-Christine, van Vliet, Guy, Abramowicz, Marc, Metzger, Daniel L., Abdullatif, Hussein, Rydlewski, Catherine, Macchia, Paolo E., Scherberg, Neal H., van Sande, Jacqueline, Mimouni, Marc, Weiss, Roy E., Vassart, Gilbert, Refetoff, Samuel

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A novel inactivating mutation of the LH/chorionic gonadotrophin receptor with impaired membrane trafficking leading to Leydig cell hypoplasia type 1 von Rivero-Müller, Adolfo, Potorac, Iulia, Pintiaux, Axelle, Daly, Adrian F, Thiry, Albert, Rydlewski, Catherine, Nisolle, Michelle, Parent, Anne-Simone, Huhtaniemi, Ilpo, Beckers, Albert

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Ectopic Thyroid Gland Causing Dysphonia: Imaging and Molecular Studies von Stoppa-Vaucher, Sophie, Lapointe, Annie, Turpin, Sophie, Rydlewski, Catherine, Vassart, Gilbert, Deladoëy, Johnny

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Characterization of a Novel Loss of Function Mutation of PAX8 in a Familial Case of Congenital Hypothyroidism with In-Place, Normal-Sized Thyroid von Meeus, Laurent, Gilbert, Brigitte, Rydlewski, Catherine, Parma, Jasmine, Roussie, Anne Lienhardt, Abramowicz, Marc, Vilain, Catheline, Christophe, Daniel, Costagliola, Sabine, Vassart, Gilbert

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Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers von Lantoine, Josephine, Brysse, Anne, Dideberg, Vinciane, Claes, Kathleen, Symoens, Sofie, Coucke, Wim, Benoit, Valerie, Rombout, Sonia, De Rycke, Martine, Seneca, Sara, Van Laer, Lut, Wuyts, Wim, Corveleyn, Anniek, Van den Bogaert, Kris, Rydlewski, Catherine, Wilkin, Francoise, Ravoet, Marie, Fastre, Elodie, Capron, Arnaud, Vandevelde, Nathalie Monique

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Frequency of participation in external quality assessment programs focused on rare diseases : Belgian guidelines for human genetics centers von Lantoine, Josephine, Brysse, Anne, Dideberg, Vinciane, Claes, Kathleen, Symoens, Sofie, Coucke, Wim, Benoit, Valerie, Rombout, Sonia, De Rycke, Martine, Seneca, Sara, Van Laer, Lut, Wuyts, Wim, Corveleyn, Anniek, Van den Bogaert, Kris, Rydlewski, Catherine, Wilkin, Francoise, Ravoet, Marie, Fastre, Elodie, Capron, Arnaud, Vandevelde, Nathalie Monique

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Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8 von VILAIN, Catheline, RYDLEWSKI, Catherine, DUPREZ, Laurence, HEINRICHS, Claudine, ABRAMOWICZ, Marc, MALVAUX, Paul, RENNEBOOG, Benoit, PARMA, Jasmine, COSTAGLIOLA, Sabine, VASSART, Gilbert

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Autosomal Dominant Transmission of Congenital Thyroid Hypoplasia Due to Loss-of-Function Mutation of PAX8 1 von Vilain, Catheline, Rydlewski, Catherine, Duprez, Laurence, Heinrichs, Claudine, Abramowicz, Marc, Malvaux, Paul, Renneboog, Benoît, Parma, Jasmine, Costagliola, Sabine, Vassart, Gilbert

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Autosomal Dominant Transmission of Congenital Thyroid Hypoplasia Due to Loss-of-Function Mutation of PAX81 von Vilain, Catheline, Rydlewski, Catherine, Duprez, Laurence, Heinrichs, Claudine, Abramowicz, Marc, Malvaux, Paul, Renneboog, Benoît, Parma, Jasmine, Costagliola, Sabine, Vassart, Gilbert

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Clinical Case Seminar: Characterization of a Novel Loss of Function Mutation of PAX8 in a Familial Case of Congenital Hypothyroidism with In-Place, Normal-Sized Thyroid von Meeus, Laurent, Gilbert, Brigitte, Rydlewski, Catherine, Parma, Jasmine, Roussie, Anne Lienhardt, Abramowicz, Marc, Vilain, Catheline, Christophe, Daniel, Costagliola, Sabine, Vassart, Gilbert

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