Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Chong Ae Kim

Showing results (61-70 of 150) with videos related to

Pageof 15
Sort By:
Genes|May 25, 2024
Neuropsychological Profile of 25 Brazilian Patients with 22q11.2 Deletion Syndrome: Effects of Clinical and Socioeconomic VariablesLarissa Salustiano Evangelista Pimenta, Claudia Berlim de Mello, Luciana Mello Di Benedetto, et al.
American Journal of Medical Genetics. Part A|January 30, 2007
Clinical characterization of autosomal dominant and recessive variants of Robinow syndromeJuliana Forte Mazzeu, Eliete Pardono, Angela M Vianna-Morgante, et al.
American Journal of Medical Genetics. Part A|February 13, 2013
Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: report of novel pathogenic copy number variantsCarla Sustek D'Angelo, Ilana Kohl, Monica Castro Varela, et al.
Autopsy & Case Reports|May 21, 2024
Trisomy 13 with unusual histological features typically described in Beckwith-Wiedemann SpectrumWilker Dias Martins, Elisa França Chaves, Flavia Cristina Gonçalves de Aquino, et al.
Codas|July 26, 2018
Cognitive and behavioral profile of Williams Syndrome toddlersAna Claúdia Braga, Luiz Renato Rodrigues Carreiro, Tally Lichtensztejn Tafla, et al.
Revista Da Associacao Medica Brasileira (1992)|June 17, 2016
Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasiaJosé Roberto Mendes Pegler, Diogo Cordeiro de Queiroz Soares, Caio Robledo D'Angioli Costa Quaio, et al.
Molecular Syndromology|April 3, 2025
Plastic Bronchitis in Noonan Syndrome: Further Evidence Suggesting a Higher Risk of Lymphatic Abnormalities in Individuals Harboring Variants in PTPN11 Residue p.Phe285Lucas Vieira Lacerda Pires, Eduardo Da Cás, Letícia Cole de Melo, et al.
Arquivos Brasileiros De Cardiologia|December 11, 2003
Williams-Beuren syndrome: cardiovascular abnormalities in 20 patients diagnosed with fluorescence in situ hybridizationSofia Mizuho Miura Sugayama, Regina Lúcia Moisés, Jaqueline Wagënfur, et al.
JIMD Reports|September 10, 2019
Clinical findings in Brazilian patients with adult GM1 gangliosidosisLuciana Giugliani, Carlos Eduardo Steiner, Chong Ae Kim, et al.
Ophthalmic Genetics|August 6, 2011
Ocular manifestations of Noonan syndromeLenina da Rocha Pitta Marin, Felipe Theodoro Bezerra Gaspar Carvalho da Silva, Luís Carlos Ferreira de Sá, et al.
Pageof 15

Showing results (61-70 of 150) with videos related to

Sort By:
Pageof 15
Genes|May 25, 2024
Neuropsychological Profile of 25 Brazilian Patients with 22q11.2 Deletion Syndrome: Effects of Clinical and Socioeconomic VariablesLarissa Salustiano Evangelista Pimenta, Claudia Berlim de Mello, Luciana Mello Di Benedetto, et al.
American Journal of Medical Genetics. Part A|January 30, 2007
Clinical characterization of autosomal dominant and recessive variants of Robinow syndromeJuliana Forte Mazzeu, Eliete Pardono, Angela M Vianna-Morgante, et al.
American Journal of Medical Genetics. Part A|February 13, 2013
Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: report of novel pathogenic copy number variantsCarla Sustek D'Angelo, Ilana Kohl, Monica Castro Varela, et al.
Autopsy & Case Reports|May 21, 2024
Trisomy 13 with unusual histological features typically described in Beckwith-Wiedemann SpectrumWilker Dias Martins, Elisa França Chaves, Flavia Cristina Gonçalves de Aquino, et al.
Codas|July 26, 2018
Cognitive and behavioral profile of Williams Syndrome toddlersAna Claúdia Braga, Luiz Renato Rodrigues Carreiro, Tally Lichtensztejn Tafla, et al.
Revista Da Associacao Medica Brasileira (1992)|June 17, 2016
Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasiaJosé Roberto Mendes Pegler, Diogo Cordeiro de Queiroz Soares, Caio Robledo D'Angioli Costa Quaio, et al.
Molecular Syndromology|April 3, 2025
Plastic Bronchitis in Noonan Syndrome: Further Evidence Suggesting a Higher Risk of Lymphatic Abnormalities in Individuals Harboring Variants in PTPN11 Residue p.Phe285Lucas Vieira Lacerda Pires, Eduardo Da Cás, Letícia Cole de Melo, et al.
Arquivos Brasileiros De Cardiologia|December 11, 2003
Williams-Beuren syndrome: cardiovascular abnormalities in 20 patients diagnosed with fluorescence in situ hybridizationSofia Mizuho Miura Sugayama, Regina Lúcia Moisés, Jaqueline Wagënfur, et al.
JIMD Reports|September 10, 2019
Clinical findings in Brazilian patients with adult GM1 gangliosidosisLuciana Giugliani, Carlos Eduardo Steiner, Chong Ae Kim, et al.
Ophthalmic Genetics|August 6, 2011
Ocular manifestations of Noonan syndromeLenina da Rocha Pitta Marin, Felipe Theodoro Bezerra Gaspar Carvalho da Silva, Luís Carlos Ferreira de Sá, et al.
Pageof 15