Infantile autism and 47,XYY karyotype Autismo infantil e cariótipo 47,XYY

by Evelyn Kuczynski, Débora Romeo Bertola, Cláudia Irene Emílio de Castro, Célia Priszkulnik Koiffmann, Chong A. Kim
Published 2009-09-01

Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?

by José RM Ceroni, Guilherme L Yamamoto, Rachel S Honjo, Chong A Kim, Maria R Passos-Bueno, Débora R Bertola
Published 2018-02-01

Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency

by Beatriz D. S. F. Bonamichi, Stella L. M. Santiago, Débora R. Bertola, Chong A. Kim, Nivaldo Alonso, Berenice B. Mendonca, Tania A. S. S. Bachega, Larissa G. Gomes
Published 2016-10-01

Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion

by Marcília S. Grassi, Cristina M. A. Jacob, Leslie D. Kulikowski, Antonio C. Pastorino, Roberta L. Dutra, Nana Miura, Marcelo B. Jatene, Stephanie P. Pegler, Chong A. Kim, Magda Carneiro-Sampaio
Published 2014-11-01

Breakpoint delineation in 5p‐ patients leads to new insights about microcephaly and the typical high‐pitched cry

by Samar N. Chehimi, Évelin A. Zanardo, José R. M. Ceroni, Amom M. Nascimento, Fabrícia A. R. Madia, Alexandre T. Dias, Gil M. N. Filho, Marília M. Montenegro, Jullian Damasceno, Thaís V. M. M. Costa, Yanca Gasparini, Chong A. Kim, Leslie D. Kulikowski
Published 2020-02-01

Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases

by Marilia M. Montenegro, Caio R. Quaio, Patricia Palmeira, Yanca Gasparini, Andreia Rangel‐Santos, Julian Damasceno, Estela M. Novak, Thamires M. Gimenez, Guilherme L. Yamamoto, Rachel S. Ronjo, Gil M. Novo‐Filho, Samar N. Chehimi, Evelin A. Zanardo, Alexandre T. Dias, Amom M. Nascimento, Thais V. M. M. Costa, Alberto J. da S. Duarte, Luiz L. Coutinho, Chong A. Kim, Leslie D. Kulikowski
Published 2020-04-01

Diagnosis and Management of Classical Homocystinuria in Brazil

by Soraia Poloni PhD, Giovana W. Hoss MD, Fernanda Sperb-Ludwig PhD, Taciane Borsatto PhD, Maria Juliana R. Doriqui MD, Emília K.E.A Leão PhD, Ney Boa-Sorte PhD, Charles M. Lourenço PhD, Chong A. Kim PhD, Carolina F. M. de Souza PhD, Helio Rocha MD, Marcia Ribeiro PhD, Carlos E. Steiner PhD, Carolina A. Moreno PhD, Pricila Bernardi MD, Eugenia Valadares PhD, Osvaldo Artigalas MD, Gerson Carvalho MD, Hector Y. C. Wanderley MD, Vânia D’Almeida PhD, Luiz C. Santana-da-Silva PhD, Henk J. Blom PhD, Ida V. D. Schwartz PhD
Published 2018-08-01