Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Fernanda Rolemberg G, Riba"'
Autor:
Sayonara Gonzalez, Maria Celia C Zuma, Fernanda Rolemberg G Riba, Maria E.S. Gomes, Juan C. Llerena, Natana Chaves Rabelo, Andre Luiz Mencalha
Publikováno v:
Genetic Testing and Molecular Biomarkers. 25:674-682
Background: Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene are related to skeletal dysplasias (SDs): acondroplasia (ACH), hypochodroplasia (HCH) and type I (TDI) and II (TDII) ta...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a9a23a5283524253e68710c0f1b5c697
https://doi.org/10.1089/gtmb.2020.0330
https://doi.org/10.1089/gtmb.2020.0330
Autor:
Fernanda Rolemberg G, Riba, Maria E S, Gomes, Natana Chaves, Rabelo, Maria Celia C, Zuma, Juan C, Llerena, André Luiz, Mencalha, Sayonara, Gonzalez
Publikováno v:
Genetic testing and molecular biomarkers. 25(10)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8b4219db8c7ab1be30503fc1bac3d6d9
https://pubmed.ncbi.nlm.nih.gov/34672771
https://pubmed.ncbi.nlm.nih.gov/34672771
Autor:
Fernanda Rolemberg G Riba, Denise P. Cavalcanti, Natana Chaves Rabelo, Maria Celia C Zuma, Natálya G. Pereira, Maria Teresa Vieira Sanseverino, Thatiane Yoshie Kanazawa, Sayonara Gonzalez, Maria E.S. Gomes, Dafne Dain Gandelman Horovitz, Juan C. Llerena
Publikováno v:
Molecular Syndromology. 9:92-99
Mutations in the fibroblast growth factor receptor 3 gene (FGFR3) cause achondroplasia (ACH), hypochondroplasia (HCH), and thanatophoric dysplasia types I and II (TDI/TDII). In this study, we performed a genetic study of 123 Brazilian patients with t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d3ba88a18a244c48034cec8b8806aba4
https://doi.org/10.1159/000486697
https://doi.org/10.1159/000486697