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A molecular analysis and long-term follow-up of two siblings with severe congenital hypothyroidism carrying the IVS30+1G>T intronic thyroglobulin mutationRubio, Ileana G S ; Galrao, Ana Luiza ; Pardo, Viviane ; Knobel, Meyer ; Possato, Roberta F ; Camargo, Rosalinda R Y ; Ferreira, Marcelo A ; Kanamura, Cristina T ; Gomes, Simone A ; Medeiros-Neto, GeraldoArquivos brasileiros de endocrinologia e metabologia, 2008-11, Vol.52 (8), p.1337-1344Brazil: Sociedade Brasileira de Endocrinologia e MetabologiaTexto completo disponível |
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Material Type: Artigo
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Monoallelic thyroid peroxidase gene mutation in a patient with congenital hypothyroidism with total iodide organification defectNeves, Solange Caires ; Mezalira, Paola Rossi ; Dias, Vera M A ; Chagas, Antonio J ; Viana, Maria ; Targovnik, Hector ; Knobel, Meyer ; Medeiros-Neto, Geraldo ; Rubio, Ileana G SArquivos brasileiros de endocrinologia e metabologia, 2010-11, Vol.54 (8), p.732-737Brazil: Sociedade Brasileira de Endocrinologia e MetabologiaTexto completo disponível |