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Material Type: Artigo
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Time course of central precocious puberty development caused by an MKRN3 gene mutation a prismatic careMonica F. Stecchini Delanie B Macedo; Ana Claudia S Reis; Ana Paula Abreu; Ayrton Custódio Moreira; Margaret de Castro; Ursula B Kaiser; Ana Claudia Latronico; Sonir Roberto Rauber AntoniniHormone Research in Paediatrics Basel v. 86, n. 2, p. 126-130, 2016Basel 2016Localização: FMRP - Fac. Medicina de Ribeirão Preto (pcd 2853580 Estantes Deslizantes )(Acessar) |
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Material Type: Artigo
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Psychomotor Retardation Caused by a Defective Thyroid Hormone Transporter: Report of Two Families with Different MCT8 MutationsAnık, Ahmet ; Kersseboom, Simone ; Demir, Korcan ; Çatlı, Gönül ; Yiş, Uluç ; Böber, Ece ; van Mullem, Alies ; van Herebeek, Ramona E.A. ; Hız, Semra ; Abacı, Ayhan ; Visser, Theo J.Hormone research in paediatrics, 2014-01, Vol.82 (4), p.261-271 [Periódico revisado por pares]Basel, Switzerland: S. Karger AGTexto completo disponível |
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3 |
Material Type: Artigo
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Use of a Sodium-Glucose Cotransporter 2 Inhibitor, Empagliflozin, in a Patient with Rabson-Mendenhall Syndromedos Santos, Sarah Simaan ; Ramaldes, Luana Aparecida ; Gabbay, Monica Andrade Lima ; Moises, Regina Celia Santiago ; Dib, Sergio AtalaHormone research in paediatrics, 2021-12, Vol.94 (7-8), p.313-316 [Periódico revisado por pares]Basel, SwitzerlandTexto completo disponível |
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Material Type: Artigo
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Role of the Natriuretic Peptide System in Normal Growth and Growth DisordersVasques, Gabriela A. ; Arnhold, Ivo J.P. ; Jorge, Alexander A.L.Hormone research in paediatrics, 2014-01, Vol.82 (4), p.222-229 [Periódico revisado por pares]Basel, Switzerland: S. Karger AGTexto completo disponível |
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Material Type: Artigo
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Combined Growth Hormone and Thyroid-Stimulating Hormone Deficiency in a Japanese Patient with a Novel Frameshift Mutation in IGSF1Asakura, Yumi ; Abe, Kiyomi ; Muroya, Koji ; Hanakawa, Junko ; Oto, Yuji ; Narumi, Satoshi ; Hasegawa, Tomonobu ; Adachi, MasanoriHormone research in paediatrics, 2015-11, Vol.84 (5), p.349-354 [Periódico revisado por pares]Basel, Switzerland: S. Karger AGTexto completo disponível |
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Material Type: Artigo
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Spectrum of Human Foxe1/TTF2 MutationsCastanet, Mireille ; Polak, MichelHormone research in paediatrics, 2010-01, Vol.73 (6), p.423-429 [Periódico revisado por pares]Basel, Switzerland: S. Karger AGTexto completo disponível |
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Material Type: Artigo
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De novo Frameshift Mutation in Fibroblast Growth Factor 8 in a Male Patient with Gonadotropin DeficiencySuzuki, Erina ; Yatsuga, Shuichi ; Igarashi, Maki ; Miyado, Mami ; Nakabayashi, Kazuhiko ; Hayashi, Keiko ; Hata, Kenichirou ; Umezawa, Akihiro ; Yamada, Gen ; Ogata, Tsutomu ; Fukami, MakiHormone research in paediatrics, 2014-01, Vol.81 (2), p.139-144 [Periódico revisado por pares]Basel, Switzerland: S. Karger AGTexto completo disponível |
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Material Type: Artigo
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Autonomous Adenomas Caused by Somatic Mutations of the Thyroid-Stimulating Hormone Receptor in ChildrenGrob, Francisca ; Deladoëy, Johnny ; Legault, Laurent ; Spigelblatt, Linda ; Fournier, Anne ; Vassart, Gilbert ; Van Vliet, GuyHormone research in paediatrics, 2014-01, Vol.81 (2), p.73-79 [Periódico revisado por pares]Basel, Switzerland: S. Karger AGTexto completo disponível |
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Material Type: Artigo
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Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal InsufficiencyWoo, Kyu Ha ; Cheon, Buwon ; Kim, Ja Hye ; Cho, Jahyang ; Kim, Gu-Hwan ; Yoo, Han-Wook ; Choi, Jin-HoHormone research in paediatrics, 2015-01, Vol.84 (2), p.116-123 [Periódico revisado por pares]Basel, Switzerland: S. Karger AGTexto completo disponível |
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10 |
Material Type: Artigo
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Heterozygous IGFALS Gene Variants in Idiopathic Short Stature and Normal Children: Impact on Height and the IGF SystemDomené, Horacio M. ; Scaglia, Paula A. ; Martínez, Alicia S. ; Keselman, Ana C. ; Karabatas, Liliana M. ; Pipman, Viviana R. ; Bengolea, Sonia V. ; Guida, María C. ; Ropelato, María G. ; Ballerini, María G. ; Lescano, Eva M. ; Blanco, Miguel A. ; Heinrich, Juan J. ; Rey, Rodolfo A. ; Jasper, Héctor G.Hormone research in paediatrics, 2013-01, Vol.80 (6), p.413-423 [Periódico revisado por pares]Basel, Switzerland: S. Karger AGTexto completo disponível |