Ngā hua rapu kaituhi :: APM

1

Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. mā Marc Abramowicz, L Duprez, Jasmine Parma, G Vassart, Claudine Heinrichs

I whakaputaina 1997

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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2

Neurological aspects of hyperinsulinism–hyperammonaemia syndrome mā Nadia Bahi‐Buisson, Emmanuel Roze, Carlo Dionisi‐Vici, Fabienne Escande, Vassili Valayannopoulos, François Feillet, Claudine Heinrichs

I whakaputaina 2008

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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3

Longitudinal study of behavioral and affective patterns in girls with central precocious puberty during long‐acting triptorelin therapy mā Danielle Xhrouet-Heinrichs, K. Lagrou, Claudine Heinrichs, Margarita Craen, L Dooms, P Malvaux, François Kanen, JP Bourguignon

I whakaputaina 1997

Whiwhi kuputuhi katoa
Artigo

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4

Discordance of Monozygotic Twins for Thyroid Dysgenesis: Implications for Screening and for Molecular Pathophysiology mā Rebecca Perry, Claudine Heinrichs, Pierre Bourdoux, Khalil El Khoury, F Szöts, Jean H. Dussault, Gilbert Vassart, Guy Van Vliet

I whakaputaina 2002

Whiwhi kuputuhi katoa
Artigo

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5

Effects of human growth hormone therapy on melanocytic naevi mā J P Bourguignon, C Ernould, J.E. Arrese, Claudine Franchimont, G.E. Piérard, Claudine Heinrichs, M. Craen, P Rochiccioli

I whakaputaina 1993

Whiwhi kuputuhi katoa
Artigo

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6

Autosomal Dominant Transmission of Congenital Thyroid Hypoplasia Due to Loss-of-Function Mutation of PAX8<sup>1</sup> mā Catheline Vilain, Catherine Rydlewski, Laurence Duprez, Claudine Heinrichs, Marc Abramowicz, P Malvaux, B. Renneboog, Jasmine Parma, Sabine Costagliola, Gilbert Vassart

I whakaputaina 2001

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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7

Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster mā A. Weber, Thomas T.F. Wienker, Martin Jung, Douglas D. Easton, H. Dean, Claudine Heinrichs, André Reis, A. J. L. Clark

I whakaputaina 1996

Whiwhi kuputuhi katoa
Artigo

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8

Prevalence and demographic features of childhood growth hormone deficiency in Belgium during the period 1986-2001 mā Muriel Thomas, G. Massa, Margarita Craen, Francis de Zegher, JP Bourguignon, Claudine Heinrichs, Jean De Schepper, M. Du Caju, G. Thiry-Counson, Michaël Maes

I whakaputaina 2004

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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9

Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylatio... mā Salah Azzi, Sylvie Rossignol, Virginie Steunou, Theo Sas, Nathalie Thibaud, Fabienne Danton, Maryline Le Jule, Claudine Heinrichs, Sylvie Cabrol, Christine Gicquel, Yves Le Bouc, Irène Netchine

I whakaputaina 2009

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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10

High-dose growth hormone treatment of short children born small for gestational age. mā Francis de Zegher, Michaël Maes, Sharron Gargosky, Claudine Heinrichs, Marc V Du Caju, Georges Thiry, Jean De Schepper, Margarita Craen, Luc Breysem, Annika Löfström, Pernilla Jönsson, Jean-Pierre Bourguignon, P Malvaux, Ron G. Rosenfeld

I whakaputaina 1996

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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11

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

I whakaputaina 2013

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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12

NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects mā Florence Roucher‐Boulez, Delphine Mallet-Motak, Dinane Samara‐Boustani, Houweyda Jilani, Asmahane Ladjouze, Pierre‐François Souchon, Dominique Simon, Sylvie Nivot, Claudine Heinrichs, Maryline Ronze, Xavier Bertagna, L. Groisne, Bruno Leheup, Catherine Naud-Saudreau, G Blondin, Christine Lefèvre, Laetitia Lemarchand, Yves Morel

I whakaputaina 2016

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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13

Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences mā Solveig Heide, Sandra Chantot‐Bastaraud, Boris Keren, Madeleine D. Harbison, Salah Azzi, Sylvie Rossignol, Caroline Michot, Marilyn Lackmy-Port Lys, Bénédicte Demeer, Claudine Heinrichs, Ron S. Newfield, Pierre Sarda, Lionel Van Maldergem, Véronique Trifard, Éloïse Giabicani, Jean‐Pierre Siffroi, Yves Le Bouc, Irène Netchine, Frédéric Brioude

I whakaputaina 2017

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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14

Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium mā Michaël R. Laurent, Jean De Schepper, Dominique Trouet, Nathalie Godefroid, Emese Boros, Claudine Heinrichs, Bert Bravenboer, Brigitte Velkeniers, Johan Lammens, Pol Harvengt, Étienne Cavalier, Jean‐François Kaux, Jacques Lombet, Kathleen De Waele, Charlotte Verroken, K. van Hoeck, Geert Mortier, Elena Levtchenko, Johan Vande Walle

I whakaputaina 2021

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Revisão

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15

Congenital Hypothyroidism: A 2020–2021 Consensus Guidelines Update—An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and th... mā A.S. Paul van Trotsenburg, Athanasia Stoupa, Juliane Léger, Tilman Rohrer, Catherine Peters, Laura Fugazzola, Alessandra Cassio, Claudine Heinrichs, Véronique Beauloye, Joachim Pohlenz, Patrice Rodien, R. Coutant, Gabor Szinnai, Philip Murray, Beate Bartès, Dominique Luton, Mariacarolina Salerno, Luisa De Sanctis, Mariacristina Vigone, Heiko Krude, Luca Persani, Michel Polak

I whakaputaina 2020

Whiwhi kuputuhi katoa
Revisão

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16

11p15 Imprinting Center Region 1 Loss of Methylation Is a Common and Specific Cause of Typical Russell-Silver Syndrome: Clinical Scoring System and Epigenetic-Phenotypic Correlatio... mā Irène Netchine, Sylvie Rossignol, Marie‐Noëlle Dufourg, Salah Azzi, Alexandra Rousseau, Laurence Périn, Muriel Houang, Virginie Steunou, Blandine Esteva, Nathalie Thibaud, Marie-Charles Raux Demay, Fabienne Danton, Elżbieta Petriczko, Anne‐Marie Bertrand, Claudine Heinrichs, Jean‐Claude Carel, Guy‐André Loeuille, Graziella Pinto, Marie‐Line Jacquemont, Christine Gicquel, Sylvie Cabrol, Yves Le Bouc

I whakaputaina 2007

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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17

<i>PRKAR1A</i>and<i>PDE4D</i>Mutations Cause Acrodysostosis but Two Distinct Syndromes with or without GPCR-Signaling Hormone Resistance mā Agnès Linglart, Helena Fryssira, Olaf Hiort, Paul-Martin Holterhus, Guiomar Pérez de Nanclares, Jesús Argente, Claudine Heinrichs, Alma Kuechler, Giovanna Mantovani, Bruno Leheup, Philippe Wicart, Virginie Chassot, Dorothée Schmidt, Oscar Rubio‐Cabezas, Annette Richter-Unruh, Sara Berrade, Arrate Pereda, Emese Boros, M.T. Muñoz-Calvo, Marco Castori, Yasemin Güneş, Guylène Bertrand, Pierre Bougnères, Éric Clauser, Caroline Silve

I whakaputaina 2012

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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