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Material Type: Artigo
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Congenital chromoanagenesis in the routine postnatal chromosomal microarray analysesVillela, Darine ; Mazzonetto, Patricia C. ; Migliavacca, Michele P. ; Perrone, Eduardo ; Guida, Gustavo ; Milanezi, Maria Fernanda G. ; Jorge, Alexander A. L. ; Ribeiro‐Bicudo, Lucilene A. ; Kok, Fernando ; Campagnari, Francine ; Rosso‐Giuliani, Liane ; Costa, Silvia Souza ; Vianna‐Morgante, Angela M. ; Pearson, Peter L. ; Krepischi, Ana C. V. ; Rosenberg, CarlaAmerican journal of medical genetics. Part A, 2021-08, Vol.185 (8), p.2335-2344 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twinsJehee, Fernanda S. ; de Oliveira, Valdirene T. ; Gurgel‐Giannetti, Juliana ; Pietra, Rafaella X. ; Rubatino, Fernando V. M. ; Carobin, Natália V. ; Vianna, Gabrielle S. ; de Freitas, Mariana L. ; Fernandes, Karla S. ; Ribeiro, Beatriz S. V. ; Brüggenwirth, Hennie T. ; Ali‐Amin, Roza ; White, Janson J. ; Akdemir, Zeynep C. ; Jhangiani, Shalini N. ; Gibbs, Richard A. ; Lupski, James R. ; Varela, Monica C. ; Koiffmann, Célia ; Rosenberg, Carla ; Carvalho, Cláudia M. B.American journal of medical genetics. Part A, 2017-09, Vol.173 (9), p.2451-2455 [Periódico revisado por pares]United States: Wiley Subscription Services, IncTexto completo disponível |
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Material Type: Artigo
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SIX3 mutations with holoprosencephalyRibeiro, Lucilene Arilho ; El-Jaick, Kenia B. ; Muenke, Maximilian ; Richieri-Costa, AntonioAmerican journal of medical genetics. Part A, 2006-12, Vol.140A (23), p.2577-2583 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |