Zoekresultaten - Kim, Chong A.
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Infantile autism and 47,XYY karyotype door Kuczynski, Evelyn, Bertola, Débora Romeo, Castro, Cláudia Irene Emílio de, Koiffmann, Célia Priszkulnik, Kim, Chong A.
Gepubliceerd in 2009Online -
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The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dyspl... door Fonseca, Ana Carolina S, Bonaldi, Adriano, Bertola, Débora R, Kim, Chong A, Otto, Paulo A, Vianna-Morgante, Angela M
Gepubliceerd in 2013Text -
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Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies door Fano, Virginia, Kim, Chong A., Rosselli, Pablo, Dib, Regina El, Shediac, Renée, Magalhães, Tatiana, Mesojedovas, Debora, Llerena, Juan
Gepubliceerd in 2022Text -
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Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries door Dutra, Roberta L, Honjo, Rachel S, Kulikowski, Leslie D, Fonseca, Fernanda M, Pieri, Patrícia C, Jehee, Fernanda S, Bertola, Debora R, Kim, Chong A
Gepubliceerd in 2012Text -
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Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency door 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.
Gepubliceerd in 2016Online -
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Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using... door 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
Gepubliceerd in 2014Text -
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Mechanisms of ring chromosome formation, ring instability and clinical consequences door 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
Gepubliceerd in 2011Text -
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Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome door 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.
Gepubliceerd in 2015Text -
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Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion door 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
Gepubliceerd in 2014Text -
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Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion door 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
Gepubliceerd in 2014Online -
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Targeted massively parallel sequencing for congenital generalized lipodystrophy door 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.
Gepubliceerd in 2020Online -
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Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy door Yamamoto, Guilherme L., Baratela, Wagner A.R., Almeida, Tatiana F., Lazar, Monize, Afonso, Clara L., Oyamada, Maria K., Suzuki, Lisa, Oliveira, Luiz A.N., Ramos, Ester S., Kim, Chong A., Passos-Bueno, Maria Rita, Bertola, Débora R.
Gepubliceerd in 2014Text -
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Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities door Sobreira, Nara, Brucato, Martha, Zhang, Li, Ladd-Acosta, Christine, Ongaco, Chrissie, Romm, Jane, Doheny, Kimberly F, Mingroni-Netto, Regina C, Bertola, Debora, Kim, Chong A, Perez, Ana BA, Melaragno, Maria I, Valle, David, Meloni, Vera A, Bjornsson, Hans T
Gepubliceerd in 2017Text -
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Breakpoint delineation in 5p‐ patients leads to new insights about microcephaly and the typical high‐pitched cry door 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.
Gepubliceerd in 2019Text