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Material Type: Article
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Genetic diagnosis of congenital hypopituitarism by a target gene panel novel pathogenic variants in GLI2, OTX2 and GHRHRMarilena Nakaguma Fernanda A Correa; Lucas S Santana; Anna F. F Benedetti; Ricardo Perez V; Martha K. P Huayllas; Mirta B Miras; Mariana F. A Funari; Antonio M Lerario; Berenice Bilharinho de Mendonça; Alexander Augusto de Lima JorgeEndocrine connections v. 8, n. 5, p. 590-595, 2019Bristol 2019Online access. The library also has physical copies. |
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Material Type: Article
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Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short statureNathalia Liberatoscioli Menezes Andrade Mariana Ferreira de Assis Funari; Renata Scalco; Naiara Castelo Branc Dantas; Raissa C Rezende; Bruna L Freire; Ana Cristina Victorino Krepischi; Ivo J P Arnhold; Alexander A. L Jorge; Gabriela Andrade VasquesEndocrine Connections Bristol v. 11, n. 12, e220214, 2022Bristol 2022Check holdings(GetIt) |
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3 |
Material Type: Article
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Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHRNakaguma, Marilena ; Correa, Fernanda A ; Santana, Lucas S ; Benedetti, Anna F F ; Perez, Ricardo V ; Huayllas, Martha K P ; Miras, Mirta B ; Funari, Mariana F A ; Lerario, Antonio M ; Mendonca, Berenice B ; Carvalho, Luciani R S ; Jorge, Alexander A L ; Arnhold, Ivo J PEndocrine Connections, 2019-05, Vol.8 (5), p.590-595 [Peer Reviewed Journal]England: Bioscientifica LtdFull text available |
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4 |
Material Type: Article
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Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short statureAndrade, Nathalia Liberatoscioli Menezes ; Funari, Mariana Ferreira de Assis ; Malaquias, Alexsandra Christianne ; Collett-Solberg, Paulo Ferrez ; Gomes, Nathalia L R A ; Scalco, Renata ; Dantas, Naiara Castelo Branco ; Rezende, Raissa C ; Tiburcio, Angelica M F P ; Souza, Micheline A R ; Freire, Bruna L ; Krepischi, Ana C V ; Longui, Carlos Alberto ; Lerario, Antonio Marcondes ; Arnhold, Ivo J P ; Jorge, Alexander A L ; Vasques, Gabriela AndradeEndocrine Connections, 2022-12, Vol.11 (12), p.1-10 [Peer Reviewed Journal]Bristol: Bioscientifica LtdFull text available |