検索結果 - Annette Grüters
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Autosomal-Dominant Mode of Inheritance of a Melanocortin-4 Receptor Mutation in a Patient with Severe Early-Onset Obesity Is Due to a Dominant-Negative Effect Caused by Receptor Di... 著者: Heike Biebermann, Heiko Krude, Andrea Elsner, Vladimir Chubanov, Thomas Gudermann, Annette Grüters
出版事項 2003Artigo -
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Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in domina... 著者: Eva Al Taji, Heike Biebermann, Z Límanová, O Hníková, Jaroslav Zikmund, Christof Dame, Annette Grüters, Jan Lebl, Heiko Krude
出版事項 2007Artigo -
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The prevalence of anti-thyroid peroxidase antibodies and autoimmune thyroiditis in children and adolescents in an iodine replete area 著者: M Kabelitz, KP Liesenkötter, Barbara Stach, H Willgerodt, W Stablein, W Singendonk, Elke Jäger‐Roman, H Litzenborger, B Ehnert, Annette Grüters
出版事項 2003Artigo -
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The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insuffici... 著者: Birgit Köhler, Lin Lin, Inas Mazen, Cigdem Cetindag, Heike Biebermann, Ilker Akkurt, Rainer Rossi, Olaf Hiort, Annette Grüters, John C. Achermann
出版事項 2009Artigo -
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関連主題
Medicine
Biology
Endocrinology
Internal medicine
Gene
Genetics
Thyroid
Mutation
Phenotype
Missense mutation
Receptor
Chemistry
Biochemistry
Pediatrics
Cell biology
Hormone
Melanocortin
Congenital hypothyroidism
Obesity
Psychiatry
Signal transduction
Disorders of sex development
Haploinsufficiency
Melanocortin receptor
Transporter
Agonist
Anatomy
Diabetes mellitus
G protein-coupled receptor
Gastroenterology