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Chong Ae Kim

Showing results (81-90 of 150) with videos related to

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Molecular Cytogenetics|February 15, 2018
Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesityCarla Sustek D'Angelo, Monica Castro Varela, Claudia Irene Emílio de Castro, et al.
International Journal of Molecular Sciences|August 29, 2024
Evaluation of 73 Enlisted Patients for Liver Transplant with Unknown Etiology Reveals a Late-Diagnosed Case of Lysosomal Acid Lipase DeficiencyKarina Lucio de Medeiros Bastos, Bruno de Oliveira Stephan, Bianca Domit Werner Linnenkamp, et al.
Clinical Genetics|December 8, 2024
Split Hand-Foot Malformations-Unveiling Unique Molecular Diagnosis From a Brazilian CohortEduardo Da Cás, José Ricardo Magliocco Ceroni, Guilherme Lopes Yamamoto, et al.
Arquivos De Neuro-Psiquiatria|November 24, 2021
Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp toolLucas Vieira Lacerda Pires, Rogério Lemos Ribeiro, Adriana Modesto de Sousa, et al.
Clinics (Sao Paulo, Brazil)|May 31, 2022
Novel rearrangements between different chromosomes with direct impact on the diagnosis of 5p- syndromeSamar Nasser Chehimi, Vanessa Tavares Almeida, Amom Mendes Nascimento, et al.
Molecular Syndromology|August 7, 2025
A Novel <i>NOTCH3</i> Variant Leading to Lateral Meningocele Syndrome: Prenatal Diagnosis and Possible Expansion of the PhenotypeIsabela Dorneles Pasa, Alessandra Caren Frey, Suelly Fazio Ferraciolli, et al.
Journal of Human Genetics|January 16, 2024
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disabilityYuta Inoue, Naomi Tsuchida, Chong Ae Kim, et al.
Genetics Research|April 8, 2024
Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion SyndromeNatalia Nunes, Beatriz Carvalho Nunes, Malú Zamariolli, et al.
International Journal of Developmental Disabilities|June 18, 2021
Associations between fetal testosterone and pro-social tendencies, anxiety and autistic symptoms in Williams syndrome: a preliminary studyAna Alexandra Caldas Osório, Júlia Horta Tabosa do Egito, Gabriela Carneiro Martins, et al.
Anais Brasileiros De Dermatologia|February 17, 2024
Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with epidermolysis bullosaSamantha Vernaschi Kelmann, Bruno de Oliveira Stephan, Silvia Maria de Macedo Barbosa, et al.
Pageof 15

Showing results (81-90 of 150) with videos related to

Sort By:
Pageof 15
Molecular Cytogenetics|February 15, 2018
Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesityCarla Sustek D'Angelo, Monica Castro Varela, Claudia Irene Emílio de Castro, et al.
International Journal of Molecular Sciences|August 29, 2024
Evaluation of 73 Enlisted Patients for Liver Transplant with Unknown Etiology Reveals a Late-Diagnosed Case of Lysosomal Acid Lipase DeficiencyKarina Lucio de Medeiros Bastos, Bruno de Oliveira Stephan, Bianca Domit Werner Linnenkamp, et al.
Clinical Genetics|December 8, 2024
Split Hand-Foot Malformations-Unveiling Unique Molecular Diagnosis From a Brazilian CohortEduardo Da Cás, José Ricardo Magliocco Ceroni, Guilherme Lopes Yamamoto, et al.
Arquivos De Neuro-Psiquiatria|November 24, 2021
Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp toolLucas Vieira Lacerda Pires, Rogério Lemos Ribeiro, Adriana Modesto de Sousa, et al.
Clinics (Sao Paulo, Brazil)|May 31, 2022
Novel rearrangements between different chromosomes with direct impact on the diagnosis of 5p- syndromeSamar Nasser Chehimi, Vanessa Tavares Almeida, Amom Mendes Nascimento, et al.
Molecular Syndromology|August 7, 2025
A Novel <i>NOTCH3</i> Variant Leading to Lateral Meningocele Syndrome: Prenatal Diagnosis and Possible Expansion of the PhenotypeIsabela Dorneles Pasa, Alessandra Caren Frey, Suelly Fazio Ferraciolli, et al.
Journal of Human Genetics|January 16, 2024
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disabilityYuta Inoue, Naomi Tsuchida, Chong Ae Kim, et al.
Genetics Research|April 8, 2024
Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion SyndromeNatalia Nunes, Beatriz Carvalho Nunes, Malú Zamariolli, et al.
International Journal of Developmental Disabilities|June 18, 2021
Associations between fetal testosterone and pro-social tendencies, anxiety and autistic symptoms in Williams syndrome: a preliminary studyAna Alexandra Caldas Osório, Júlia Horta Tabosa do Egito, Gabriela Carneiro Martins, et al.
Anais Brasileiros De Dermatologia|February 17, 2024
Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with epidermolysis bullosaSamantha Vernaschi Kelmann, Bruno de Oliveira Stephan, Silvia Maria de Macedo Barbosa, et al.
Pageof 15