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Chong Ae Kim

Showing results (31-40 of 150) with videos related to

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Brain & Development|August 27, 2013
New insights in mucopolysaccharidosis type VI: neurological perspectiveFelippe Borlot, Paula Ricci Arantes, Caio Robledo Quaio, et al.
Revista Da Associacao Medica Brasileira (1992)|January 24, 2019
Diagnosis and management of systemic hypertension due to renovascular and aortic stenosis in patients with Williams-Beuren syndromeErika Arai Furusawa, Camila Sanches Lanetzki Esposito, Rachel Sayuri Honjo, et al.
Genetic Testing and Molecular Biomarkers|April 22, 2009
A duplex allele-specific amplification PCR to detect SMN1 deletionPatrícia de Campos Pieri, Jeronimo de Alencar Nogueira, Maria Joaquina Marques-Dias, et al.
Intractable & Rare Diseases Research|September 26, 2017
Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series studyJosé Francisco da Silva Franco, Regina El Dib, Arnav Agarwal, et al.
European Journal of Human Genetics : EJHG|June 30, 2011
Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndromeMary J Gray, Chong Ae Kim, Debora Romeo Bertola, et al.
American Journal of Medical Genetics. Part A|January 12, 2022
The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestryTaccyanna M Ali, Bianca D W Linnenkamp, Guilherme L Yamamoto, et al.
Journal of Applied Research in Intellectual Disabilities : JARID|August 31, 2023
Parental attitudes and beliefs about sexuality of individuals with intellectual disability: Insights from a Brazilian sample of parents of individuals with Williams syndromeRebeca Orselli Monteiro, Tally Lichtensztejn Tafla, Juliana Dalla Martha Rodriguez, et al.
Skeletal Radiology|February 4, 2019
Clinical and radiological findings in Brazilian patients with mucolipidosis types II/IIIJosé Ricardo Magliocco Ceroni, Gustavo Marquezani Spolador, Diana Salazar Bermeo, et al.
Molecular Syndromology|August 18, 2015
Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann SyndromeJúlia Hatagami Marques, Guilherme Lopes Yamamoto, Larissa de Cássia Testai, et al.
Clinical Genetics|January 16, 2023
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorderEri Imagawa, Rie Seyama, Hiromi Aoi, et al.
Pageof 15

Showing results (31-40 of 150) with videos related to

Sort By:
Pageof 15
Brain & Development|August 27, 2013
New insights in mucopolysaccharidosis type VI: neurological perspectiveFelippe Borlot, Paula Ricci Arantes, Caio Robledo Quaio, et al.
Revista Da Associacao Medica Brasileira (1992)|January 24, 2019
Diagnosis and management of systemic hypertension due to renovascular and aortic stenosis in patients with Williams-Beuren syndromeErika Arai Furusawa, Camila Sanches Lanetzki Esposito, Rachel Sayuri Honjo, et al.
Genetic Testing and Molecular Biomarkers|April 22, 2009
A duplex allele-specific amplification PCR to detect SMN1 deletionPatrícia de Campos Pieri, Jeronimo de Alencar Nogueira, Maria Joaquina Marques-Dias, et al.
Intractable & Rare Diseases Research|September 26, 2017
Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series studyJosé Francisco da Silva Franco, Regina El Dib, Arnav Agarwal, et al.
European Journal of Human Genetics : EJHG|June 30, 2011
Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndromeMary J Gray, Chong Ae Kim, Debora Romeo Bertola, et al.
American Journal of Medical Genetics. Part A|January 12, 2022
The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestryTaccyanna M Ali, Bianca D W Linnenkamp, Guilherme L Yamamoto, et al.
Journal of Applied Research in Intellectual Disabilities : JARID|August 31, 2023
Parental attitudes and beliefs about sexuality of individuals with intellectual disability: Insights from a Brazilian sample of parents of individuals with Williams syndromeRebeca Orselli Monteiro, Tally Lichtensztejn Tafla, Juliana Dalla Martha Rodriguez, et al.
Skeletal Radiology|February 4, 2019
Clinical and radiological findings in Brazilian patients with mucolipidosis types II/IIIJosé Ricardo Magliocco Ceroni, Gustavo Marquezani Spolador, Diana Salazar Bermeo, et al.
Molecular Syndromology|August 18, 2015
Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann SyndromeJúlia Hatagami Marques, Guilherme Lopes Yamamoto, Larissa de Cássia Testai, et al.
Clinical Genetics|January 16, 2023
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorderEri Imagawa, Rie Seyama, Hiromi Aoi, et al.
Pageof 15