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, Fastré, Elodie, Capron, Arnaud, Vandevelde, Nathalie Monique
Published in JMIR medical informatics (01.07.2021)
Published in JMIR medical informatics (01.07.2021)
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Mutations of calcium-sensing receptor gene: two novel mutations and overview of impact on calcium homeostasis
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
Published in European journal of endocrinology (01.08.2011)
Published in European journal of endocrinology (01.08.2011)
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Autosomal Dominant Resistance to Thyrotropin as a Distinct Entity in Five Multigenerational Kindreds: Clinical Characterization and Exclusion of Candidate Loci
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
Published in The journal of clinical endocrinology and metabolism (01.07.2005)
Published in The journal of clinical endocrinology and metabolism (01.07.2005)
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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
Rivero-Müller, Adolfo, Potorac, Iulia, Pintiaux, Axelle, Daly, Adrian F, Thiry, Albert, Rydlewski, Catherine, Nisolle, Michelle, Parent, Anne-Simone, Huhtaniemi, Ilpo, Beckers, Albert
Published in European journal of endocrinology (01.06.2015)
Published in European journal of endocrinology (01.06.2015)
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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
Meeus, Laurent, Gilbert, Brigitte, Rydlewski, Catherine, Parma, Jasmine, Roussie, Anne Lienhardt, Abramowicz, Marc, Vilain, Catheline, Christophe, Daniel, Costagliola, Sabine, Vassart, Gilbert
Published in The journal of clinical endocrinology and metabolism (01.09.2004)
Published in The journal of clinical endocrinology and metabolism (01.09.2004)
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Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8
VILAIN, Catheline, RYDLEWSKI, Catherine, DUPREZ, Laurence, HEINRICHS, Claudine, ABRAMOWICZ, Marc, MALVAUX, Paul, RENNEBOOG, Benoit, PARMA, Jasmine, COSTAGLIOLA, Sabine, VASSART, Gilbert
Published in The journal of clinical endocrinology and metabolism (2001)
Published in The journal of clinical endocrinology and metabolism (2001)
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Autosomal Dominant Transmission of Congenital Thyroid Hypoplasia Due to Loss-of-Function Mutation of PAX8 1
Vilain, Catheline, Rydlewski, Catherine, Duprez, Laurence, Heinrichs, Claudine, Abramowicz, Marc, Malvaux, Paul, Renneboog, Benoît, Parma, Jasmine, Costagliola, Sabine, Vassart, Gilbert
Published in The journal of clinical endocrinology and metabolism (01.01.2001)
Published in The journal of clinical endocrinology and metabolism (01.01.2001)
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Autosomal Dominant Transmission of Congenital Thyroid Hypoplasia Due to Loss-of-Function Mutation of PAX81
Vilain, Catheline, Rydlewski, Catherine, Duprez, Laurence, Heinrichs, Claudine, Abramowicz, Marc, Malvaux, Paul, Renneboog, Benoît, Parma, Jasmine, Costagliola, Sabine, Vassart, Gilbert
Published in The journal of clinical endocrinology and metabolism (01.01.2001)
Published in The journal of clinical endocrinology and metabolism (01.01.2001)
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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
Meeus, Laurent, Gilbert, Brigitte, Rydlewski, Catherine, Parma, Jasmine, Roussie, Anne Lienhardt, Abramowicz, Marc, Vilain, Catheline, Christophe, Daniel, Costagliola, Sabine, Vassart, Gilbert
Published in The journal of clinical endocrinology and metabolism (01.09.2004)
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Published in The journal of clinical endocrinology and metabolism (01.09.2004)
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