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Chong Ae Kim

Showing results (11-20 of 150) with videos related to

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Ophthalmic Genetics|August 19, 2017
Multimodal image analysis of the retina in Hunter syndrome (mucopolysaccharidosis type II): Case reportIsadora Darriba Macedo Salvucci, Simone Finzi, Maria Kiyoko Oyamada, et al.
International Archives of Otorhinolaryngology|October 28, 2024
Audiological Characterization of Individuals with Cornelia de Lange SyndromeNayara Pereira Santos, Liliane Aparecida Fagundes Silva, Ivone Ferreira Neves-Lobo, et al.
Clinical Immunology (Orlando, Fla.)|July 20, 2014
NK and B cell deficiency in a MPS type II family with novel mutation in the IDS geneLeuridan Cavalcante Torres, Diogo Cordeiro de Queiroz Soares, Leslie Domenici Kulikowski, et al.
Scientific Reports|April 9, 2025
Cytogenomic characterization of karyotypes with additional autosomal materialPriscila Soares Rodrigues, Bruna Burssed, Fernanda Bellucco, et al.
Journal of Communication Disorders|December 14, 2023
Study of the peripheral and central auditory pathways in patients with mucopolysaccharidosisFlávia Teixeira Chimelo, Liliane Aparecida Fagundes Silva, Ivone Ferreira Neves-Lobo, et al.
Clinics (Sao Paulo, Brazil)|May 17, 2007
Williams Syndrome: development of a new scoring system for clinical diagnosisSofia Mizuho Miura Sugayama, Cláudio Leone, Maria de Lourdes Lopes Ferrari Chauffaille, et al.
Dermatology (Basel, Switzerland)|February 8, 2012
Copy number variations on chromosome 4q26-27 are associated with Cantu syndromeMazen Kurban, Chong Ae Kim, Maija Kiuru, et al.
Journal of Human Genetics|May 1, 2007
Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS geneDébora Romeo Bertola, Alexandre Costa Pereira, Amanda Salem Brasil, et al.
Nature Reviews. Disease Primers|June 18, 2021
Williams syndromeBeth A Kozel, Boaz Barak, Chong Ae Kim, et al.
Human Immunology|December 18, 2015
CD4+CD25 high Foxp3+ Treg deficiency in a Brazilian patient with Gaucher disease and lupus nephritisMarina Cadena Matta, Diogo Cordeiro Soares, Marcelo Soares Kerstenetzky, et al.
Pageof 15

Showing results (11-20 of 150) with videos related to

Sort By:
Pageof 15
Ophthalmic Genetics|August 19, 2017
Multimodal image analysis of the retina in Hunter syndrome (mucopolysaccharidosis type II): Case reportIsadora Darriba Macedo Salvucci, Simone Finzi, Maria Kiyoko Oyamada, et al.
International Archives of Otorhinolaryngology|October 28, 2024
Audiological Characterization of Individuals with Cornelia de Lange SyndromeNayara Pereira Santos, Liliane Aparecida Fagundes Silva, Ivone Ferreira Neves-Lobo, et al.
Clinical Immunology (Orlando, Fla.)|July 20, 2014
NK and B cell deficiency in a MPS type II family with novel mutation in the IDS geneLeuridan Cavalcante Torres, Diogo Cordeiro de Queiroz Soares, Leslie Domenici Kulikowski, et al.
Scientific Reports|April 9, 2025
Cytogenomic characterization of karyotypes with additional autosomal materialPriscila Soares Rodrigues, Bruna Burssed, Fernanda Bellucco, et al.
Journal of Communication Disorders|December 14, 2023
Study of the peripheral and central auditory pathways in patients with mucopolysaccharidosisFlávia Teixeira Chimelo, Liliane Aparecida Fagundes Silva, Ivone Ferreira Neves-Lobo, et al.
Clinics (Sao Paulo, Brazil)|May 17, 2007
Williams Syndrome: development of a new scoring system for clinical diagnosisSofia Mizuho Miura Sugayama, Cláudio Leone, Maria de Lourdes Lopes Ferrari Chauffaille, et al.
Dermatology (Basel, Switzerland)|February 8, 2012
Copy number variations on chromosome 4q26-27 are associated with Cantu syndromeMazen Kurban, Chong Ae Kim, Maija Kiuru, et al.
Journal of Human Genetics|May 1, 2007
Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS geneDébora Romeo Bertola, Alexandre Costa Pereira, Amanda Salem Brasil, et al.
Nature Reviews. Disease Primers|June 18, 2021
Williams syndromeBeth A Kozel, Boaz Barak, Chong Ae Kim, et al.
Human Immunology|December 18, 2015
CD4+CD25 high Foxp3+ Treg deficiency in a Brazilian patient with Gaucher disease and lupus nephritisMarina Cadena Matta, Diogo Cordeiro Soares, Marcelo Soares Kerstenetzky, et al.
Pageof 15