Penile anthropometry in adolescents and adults systemic lupus erythematosus

por Vecchi, Ana P, Borba, Eduardo F, Bonfá, Eloísa, Cocuzza, Marcelo, Pieri, Patrícia, Kim, Chong A, Silva, Clovis A
Publicado 2011

The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dyspl...

por Fonseca, Ana Carolina S, Bonaldi, Adriano, Bertola, Débora R, Kim, Chong A, Otto, Paulo A, Vianna-Morgante, Angela M
Publicado 2013

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

por Ceroni, José RM, Yamamoto, Guilherme L, Honjo, Rachel S, Kim, Chong A, Passos-Bueno, Maria R, Bertola, Débora R
Publicado 2018

Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies

por Fano, Virginia, Kim, Chong A., Rosselli, Pablo, Dib, Regina El, Shediac, Renée, Magalhães, Tatiana, Mesojedovas, Debora, Llerena, Juan
Publicado 2022

Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries

por Dutra, Roberta L, Honjo, Rachel S, Kulikowski, Leslie D, Fonseca, Fernanda M, Pieri, Patrícia C, Jehee, Fernanda S, Bertola, Debora R, Kim, Chong A
Publicado 2012

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

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

Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using...

por D’Angelo, Carla S, Varela, Monica C, de Castro, Cláudia IE, Kim, Chong A, Bertola, Débora R, Lourenço, Charles M, Perez, Ana Beatriz A, Koiffmann, Celia P
Publicado 2014

Mechanisms of ring chromosome formation, ring instability and clinical consequences

por Guilherme, Roberta S, Ayres Meloni, Vera F, Kim, Chong A, Pellegrino, Renata, Takeno, Sylvia S, Spinner, Nancy B, Conlin, Laura K, Christofolini, Denise M, Kulikowski, Leslie D, Melaragno, Maria I
Publicado 2011

Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome

por Costa, Larissa Sampaio de Athayde, Zandona-Teixeira, Aline C., Montenegro, Marilia M., Dias, Alexandre T., Dutra, Roberta L., Honjo, Rachel S., Bertola, Debora R., Kulikowski, Leslie D., Kim, Chong A.
Publicado 2015

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

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

Targeted massively parallel sequencing for congenital generalized lipodystrophy

por Costa-Riquetto, Aline D., Santana, Lucas S., Caetano, Lílian A., Lerário, Antônio M., Correia-Deur, Joya E. M., Bertola, Débora R., Kim, Chong A., Nery, Márcia, Jorge, Alexander A. L., Teles, Milena G.
Publicado 2020

Childhood Hypophosphatasia Associated with a Novel Biallelic ALPL Variant at the TNSALP Dimer Interface

por Martins, Luciane, Lessa, Luis Gustavo F., Ali, Taccyanna M., Lazar, Monize, Kim, Chong A., Kantovitz, Kamila R., Santamaria, Mauro P., Araújo, Cássia F., Ramos, Carolina J., Foster, Brian L., Franco, José Francisco S., Bertola, Débora, Nociti, Francisco H.
Publicado 2022

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

por Chehimi, Samar N., Zanardo, Évelin A., Ceroni, José R. M., Nascimento, Amom M., Madia, Fabrícia A. R., Dias, Alexandre T., Filho, Gil M. N., Montenegro, Marília M., Damasceno, Jullian, Costa, Thaís V. M. M., Gasparini, Yanca, Kim, Chong A., Kulikowski, Leslie D.
Publicado 2019

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

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

CBS mutations are good predictors for B6‐responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients

por Poloni, Soraia, Sperb‐Ludwig, Fernanda, Borsatto, Taciane, Weber Hoss, Giovana, Doriqui, Maria Juliana R., Embiruçu, Emília K., Boa‐Sorte, Ney, Marques, Charles, Kim, Chong A., Fischinger Moura de Souza, Carolina, Rocha, Helio, Ribeiro, Marcia, Steiner, Carlos E., Moreno, Carolina A., Bernardi, Pricila, Valadares, Eugenia, Artigalas, Osvaldo, Carvalho, Gerson, Wanderley, Hector Y. C., Kugele, Johanna, Walter, Melanie, Gallego‐Villar, Lorena, Blom, Henk J., Schwartz, Ida Vanessa D.
Publicado 2018