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Chong Ae Kim

Showing results (91-100 of 150) with videos related to

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European Journal of Medical Research|August 26, 2016
Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast regionThaís Fenz Araujo, Erlane Marques Ribeiro, Anderson Pontes Arruda, et al.
American Journal of Medical Genetics. Part A|April 5, 2014
Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletionRoberta Santos Guilherme, Karina Cunha Soares, Milena Simioni, et al.
Clinical Genetics|August 3, 2021
Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic formsLetícia Alves da Rocha, Lucas Vieira Lacerda Pires, Guilherme Lopes Yamamoto, et al.
Clinics (Sao Paulo, Brazil)|July 26, 2022
Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS IIBruno de Oliveira Stephan, Caio Robledo Quaio, Gustavo Marquezani Spolador, et al.
Plos One|April 6, 2012
Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophyFernanda dos Santos Pereira, Ursula Matte, Clarissa Troller Habekost, et al.
Scientific Reports|May 13, 2022
Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseasesCaio Robledo D 'Angioli Costa Quaio, Jose Ricardo Magliocco Ceroni, Murilo Castro Cervato, et al.
Clinics (Sao Paulo, Brazil)|October 26, 2017
Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experienceÉvelin Aline Zanardo, Roberta Lelis Dutra, Flavia Balbo Piazzon, et al.
JIMD Reports|July 14, 2021
Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct <i>GLB1</i>-related phenotypeSylvia Stockler-Ipsiroglu, Nahid Yazdanpanah, Mojgan Yazdanpanah, et al.
Diabetes|May 27, 2003
Prevalence of mutations in AGPAT2 among human lipodystrophiesJocelyne Magré, Marc Delépine, Lionel Van Maldergem, et al.
American Journal of Human Genetics|March 6, 2012
Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFBAndreas Zankl, Emma L Duncan, Paul J Leo, et al.
Pageof 15

Showing results (91-100 of 150) with videos related to

Sort By:
Pageof 15
European Journal of Medical Research|August 26, 2016
Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast regionThaís Fenz Araujo, Erlane Marques Ribeiro, Anderson Pontes Arruda, et al.
American Journal of Medical Genetics. Part A|April 5, 2014
Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletionRoberta Santos Guilherme, Karina Cunha Soares, Milena Simioni, et al.
Clinical Genetics|August 3, 2021
Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic formsLetícia Alves da Rocha, Lucas Vieira Lacerda Pires, Guilherme Lopes Yamamoto, et al.
Clinics (Sao Paulo, Brazil)|July 26, 2022
Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS IIBruno de Oliveira Stephan, Caio Robledo Quaio, Gustavo Marquezani Spolador, et al.
Plos One|April 6, 2012
Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophyFernanda dos Santos Pereira, Ursula Matte, Clarissa Troller Habekost, et al.
Scientific Reports|May 13, 2022
Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseasesCaio Robledo D 'Angioli Costa Quaio, Jose Ricardo Magliocco Ceroni, Murilo Castro Cervato, et al.
Clinics (Sao Paulo, Brazil)|October 26, 2017
Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experienceÉvelin Aline Zanardo, Roberta Lelis Dutra, Flavia Balbo Piazzon, et al.
JIMD Reports|July 14, 2021
Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct <i>GLB1</i>-related phenotypeSylvia Stockler-Ipsiroglu, Nahid Yazdanpanah, Mojgan Yazdanpanah, et al.
Diabetes|May 27, 2003
Prevalence of mutations in AGPAT2 among human lipodystrophiesJocelyne Magré, Marc Delépine, Lionel Van Maldergem, et al.
American Journal of Human Genetics|March 6, 2012
Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFBAndreas Zankl, Emma L Duncan, Paul J Leo, et al.
Pageof 15