檢索結果 - Carl‐Joachim Partsch
- Showing 1 - 7 results of 7
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Homozygous Disruption of P450 Side-Chain Cleavage (CYP11A1) Is Associated with Prematurity, Complete 46,XY Sex Reversal, and Severe Adrenal Failure 由 Olaf Hiort, Paul‐Martin Holterhus, Ralf Werner, Christine Marschke, U. Hoppe, Carl‐Joachim Partsch, Felix G. Riepe, John C. Achermann, Dagmar Struve
出版 2005Artigo -
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Human and mouse<i>TPIT</i>gene mutations cause early onset pituitary ACTH deficiency 由 Anne-Marie Pulichino, Sophie Vallette-Kasic, Catherine Couture, Yves Gauthier, Thierry Brue, M David, G Malpuech, Cheri Deal, Guy Van Vliet, Monique De Vroede, Felix G. Riepe, Carl‐Joachim Partsch, Wolfgang G. Sippell, Merih Berberoğlu, Begüm Atasay, Jacques Drouin
出版 2003Artigo -
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Congenital Isolated Adrenocorticotropin Deficiency: An Underestimated Cause of Neonatal Death, Explained by<i>TPIT</i>Gene Mutations 由 Sophie Vallette-Kasic, Thierry Brue, Anne-Marie Pulichino, Magali Gueydan, Anne Barlier, M David, Marc Nicolino, G Malpuech, Pierre Déchelotte, Cheri Deal, Guy Van Vliet, Monique De Vroede, Felix G. Riepe, Carl‐Joachim Partsch, Wolfgang G. Sippell, Merih Berberoğlu, Begüm Atasay, Francis de Zegher, Dominique Beckers, Jennifer Kyllo, Patricia A. Donohoue, Martin Faßnacht, Stefanie Hahner, Bruno Allolio, C. Noordam, Leo Dunkel, Matti Hero, B. Pigeon, Jacques Weill, Sevket Yigit, Raja Brauner, Juan J. Heinrich, Elizabeth A. Cummings, Christie Riddell, A Enjalbert, Jacques Drouin
出版 2005Artigo -
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A large-scale mutation search reveals genetic heterogeneity in 3M syndrome 由 Céline Huber, Anee-Lise Delezoide, Fabien Guimiot, Clarisse Baumann, Valérie Malan, Martine Le Merrer, Daniela Bezerra Da Silva, Dominique Bonneau, Pierre Chatelain, Carol Chu, Robin D. Clark, Helen Cox, Patrick Edery, Thomas Édouard, Virginia Fano, Kate Gibson, Gabriele Gillessen‐Kaesbach, M. L. Giovannucci-Uzielli, Luitgard Graul‐Neumann, Johana-Maria van Hagen, Liselot van Hest, Dafne Dain Gandelman Horovitz, Judith Melki, Carl‐Joachim Partsch, H Plauchu, Anna Rajab, Massimiliano Rossi, David Sillence, Elisabeth Steichen‐Gersdorf, Helen Stewart, Sheila Unger, Martin Zenker, Arnold Münnich, Valérie Cormier‐Daire
出版 2008Artigo
相關主題
Biology
Endocrinology
Gene
Genetics
Medicine
Mutation
Hormone
Internal medicine
Adrenal insufficiency
Gonadotropin-releasing hormone
Luteinizing hormone
Phenotype
Adrenarche
Agonist
Allele
Body mass index
Bone age
Bone density
Bone mineral
Cholesterol side-chain cleavage enzyme
Chromosome
Cleavage (geology)
Compound heterozygosity
Congenital adrenal hyperplasia
Corticotropic cell
Delayed puberty
Duchenne muscular dystrophy
Dwarfism
Estrogen
Femoral neck