检索结果 - Johnny Deladoëy

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  1. 1
    Variation by Ethnicity in the Prevalence of Congenital Hypothyroidism Due to Thyroid Dysgenesis

    Variation by Ethnicity in the Prevalence of Congenital Hypothyroidism Due to Thyroid Dysgenesis 由 Sophie Stoppa‐Vaucher, Guy Van Vliet, Johnny Deladoëy

    出版 2010
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    Artigo
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  2. 2
    Is the Incidence of Congenital Hypothyroidism Really Increasing? A 20-Year Retrospective Population-Based Study in Québec

    Is the Incidence of Congenital Hypothyroidism Really Increasing? A 20-Year Retrospective Population-Based Study in Québec 由 Johnny Deladoëy, Jean Ruel, Yves Giguère, Guy Van Vliet

    出版 2011
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    Artigo
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  3. 3
    Aromatase Deficiency Caused by a Novel P450arom Gene Mutation: Impact of Absent Estrogen Production on Serum Gonadotropin Concentration in a Boy1

    Aromatase Deficiency Caused by a Novel P450arom Gene Mutation: Impact of Absent Estrogen Production on Serum Gonadotropin Concentration in a Boy1 由 Johnny Deladoëy, Christa E. Flück, Marie Bex, Noriko Yoshimura, Nobuhiro Harada, Primus E. Mullis

    出版 1999
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    Artigo
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  4. 4
    Influence of Adiposity, Physical Activity, Fitness, and Screen Time on Insulin Dynamics Over 2 Years in Children

    Influence of Adiposity, Physical Activity, Fitness, and Screen Time on Insulin Dynamics Over 2 Years in Children 由 Mélanie Henderson, Andrea Benedetti, Tracie A. Barnett, Marie‐Ève Mathieu, Johnny Deladoëy, Katherine Gray‐Donald

    出版 2016
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    Artigo
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  5. 5
    Phenotypic Variability in Familial Combined Pituitary Hormone Deficiency Caused by a PROP1 Gene Mutation Resulting in the Substitution of Arg→Cys at Codon 120 (R120C)1

    Phenotypic Variability in Familial Combined Pituitary Hormone Deficiency Caused by a PROP1 Gene Mutation Resulting in the Substitution of Arg→Cys at Codon 120 (R120C)1 由 Christa E. Flück, Johnny Deladoëy, Kuno Rutishauser, Andrée Eblé, Ulrich Marti, Wei Wu, Primus E. Mullis

    出版 1998
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    Artigo
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  6. 6
    “Hot Spot” in the PROP1 Gene Responsible for Combined Pituitary Hormone Deficiency<sup>1</sup>

    “Hot Spot” in the PROP1 Gene Responsible for Combined Pituitary Hormone Deficiency<sup>1</sup> 由 Johnny Deladoëy, Christa E. Flück, Atilla Büyükgebiz, Beatrice V. Kuhlmann, Andrée Eblé, Peter C. Hindmarsh, Wei Wu, Primus E. Mullis

    出版 1999
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  7. 7
    Functional Zebrafish Studies Based on Human Genotyping Point to Netrin-1 as a Link Between Aberrant Cardiovascular Development and Thyroid Dysgenesis

    Functional Zebrafish Studies Based on Human Genotyping Point to Netrin-1 as a Link Between Aberrant Cardiovascular Development and Thyroid Dysgenesis 由 Robert Opitz, Marc‐Phillip Hitz, Isabelle Vandernoot, Achim Trubiroha, Rasha Abu‐Khudir, Mark E. Samuels, Valérie Désilets, Sabine Costagliola, Grégor Andelfinger, Johnny Deladoëy

    出版 2014
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    Artigo
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  8. 8
    Short Stature Caused by a Biologically Inactive Mutant Growth Hormone (GH-C53S)

    Short Stature Caused by a Biologically Inactive Mutant Growth Hormone (GH-C53S) 由 Amélie Besson, Souzan Salemi, Johnny Deladoëy, Jean‐Marc Vuissoz, Andrée Eblé, Martin Bidlingmaier, Sibylle Bürgi, Ulrich E. Honegger, Christa E. Flück, Primus E. Mullis

    出版 2005
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    Artigo
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  9. 9
    Isolated Autosomal Dominant Growth Hormone Deficiency: An Evolving Pituitary Deficit? A Multicenter Follow-Up Study

    Isolated Autosomal Dominant Growth Hormone Deficiency: An Evolving Pituitary Deficit? A Multicenter Follow-Up Study 由 Primus E. Mullis, Iain C. A. F. Robinson, Souzan Salemi, Andrée Eblé, Amélie Besson, Jean‐Marc Vuissoz, Johnny Deladoëy, Dominique Simon, Paul Czernichow, Gerhard Binder

    出版 2005
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  10. 10
    Bioinactive ACTH Causing Glucocorticoid Deficiency

    Bioinactive ACTH Causing Glucocorticoid Deficiency 由 Mark E. Samuels, Nicole Gallo‐Payet, Sandra Pinard, Caroline Hasselmann, Fabien Magne, Lysanne Patry, L. A. Chouinard, Jeremy Schwartzentruber, Patricia René, Nicole Sawyer, Michel Bouvier, Anissa Djemli, Edgard Delvin, Céline Huot, Dardye Eugène, Cheri Deal, Guy Van Vliet, Jacek Majewski, Johnny Deladoëy

    出版 2013
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    Artigo
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  11. 11
    Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

    Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care 由 Sarah L. Sawyer, Taila Hartley, David A. Dyment, Chandree L. Beaulieu, Jeremy Schwartzentruber, Amanda Smith, H. Melanie Bedford, Geneviève Bernard, François Bernier, Bernard Brais, Dennis E. Bulman, Jodi Warman‐Chardon, David Chitayat, Johnny Deladoëy, Bridget A. Fernandez, Patrick Frosk, Michael T. Geraghty, Brenda Gerull, William T. Gibson, Robert M. Gow, Gail E. Graham, Jane S. Green, Elise Héon, Gabriella Horváth, A. Micheil Innes, Nada Jabado, Raymond H. Kim, R. K. Koenekoop, Aneal Khan, Ordan J. Lehmann, Roberto Mendoza‐Londono, Jacques L. Michaud, Sarah M. Nikkel, Lynette S. Penney, Constantin Polychronakos, Julie Richer, Guy A. Rouleau, Mark E. Samuels, Victoria Mok Siu, Oksana Suchowersky, Mark A. Tarnopolsky, Grace Yoon, Farah Zahir, Jacek Majewski, Kym M. Boycott

    出版 2015
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    Revisão
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