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Chong Ae Kim

Showing results (51-60 of 150) with videos related to

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Journal of Human Genetics|July 5, 2019
Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1Ken Saida, Chong Ae Kim, José Ricardo Magliocco Ceroni, et al.
Epilepsia|January 6, 2011
Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsyAna Cristina Victorino Krepischi, Jeroen Knijnenburg, Debora Romeo Bertola, et al.
Clinics (Sao Paulo, Brazil)|September 6, 2012
A clinical follow-up of 35 Brazilian patients with Prader-Willi syndromeCaio Robledo D'Angioli Costa Quaio, Tatiana Ferreira de Almeida, Lilian Maria José Albano, et al.
Pediatric Dermatology|October 4, 2006
Exuberant juvenile hyaline fibromatosis in two patientsMariela Leão Muniz, Alice Zoghbi Coelho Lobo, Maria Cecília da Matta Rivitti Machado, et al.
Revista Da Associacao Medica Brasileira (1992)|November 26, 2015
Menkes disease: importance of diagnosis with molecular analysis in the neonatal periodLarissa Sampaio de Athayde Costa, Stephanie Pucci Pegler, Rute Facchini Lellis, et al.
European Journal of Medical Genetics|April 5, 2011
Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countriesFernanda Sarquis Jehee, Jean Tetsuo Takamori, Paula F Vasconcelos Medeiros, et al.
Clinics (Sao Paulo, Brazil)|September 17, 2013
Tegumentary manifestations of Noonan and Noonan-related syndromesCaio Robledo D'Angioli Costa Quaio, Tatiana Ferreira de Almeida, Amanda Salem Brasil, et al.
Genes|November 12, 2016
Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian CohortKyungsoo Ha, Priya Anand, Jennifer A Lee, et al.
American Journal of Medical Genetics. Part A|June 3, 2021
Atypical, severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variantLucas Vieira Lacerda Pires, Renata de Almeida Bordim, Maria Beatriz Rabelo Maciel, et al.
American Journal of Medical Genetics. Part A|March 1, 2021
Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristicsRachel Sayuri Honjo, Matheus Augusto Araújo Castro, Suely Fazio Ferraciolli, et al.
Pageof 15

Showing results (51-60 of 150) with videos related to

Sort By:
Pageof 15
Journal of Human Genetics|July 5, 2019
Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1Ken Saida, Chong Ae Kim, José Ricardo Magliocco Ceroni, et al.
Epilepsia|January 6, 2011
Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsyAna Cristina Victorino Krepischi, Jeroen Knijnenburg, Debora Romeo Bertola, et al.
Clinics (Sao Paulo, Brazil)|September 6, 2012
A clinical follow-up of 35 Brazilian patients with Prader-Willi syndromeCaio Robledo D'Angioli Costa Quaio, Tatiana Ferreira de Almeida, Lilian Maria José Albano, et al.
Pediatric Dermatology|October 4, 2006
Exuberant juvenile hyaline fibromatosis in two patientsMariela Leão Muniz, Alice Zoghbi Coelho Lobo, Maria Cecília da Matta Rivitti Machado, et al.
Revista Da Associacao Medica Brasileira (1992)|November 26, 2015
Menkes disease: importance of diagnosis with molecular analysis in the neonatal periodLarissa Sampaio de Athayde Costa, Stephanie Pucci Pegler, Rute Facchini Lellis, et al.
European Journal of Medical Genetics|April 5, 2011
Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countriesFernanda Sarquis Jehee, Jean Tetsuo Takamori, Paula F Vasconcelos Medeiros, et al.
Clinics (Sao Paulo, Brazil)|September 17, 2013
Tegumentary manifestations of Noonan and Noonan-related syndromesCaio Robledo D'Angioli Costa Quaio, Tatiana Ferreira de Almeida, Amanda Salem Brasil, et al.
Genes|November 12, 2016
Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian CohortKyungsoo Ha, Priya Anand, Jennifer A Lee, et al.
American Journal of Medical Genetics. Part A|June 3, 2021
Atypical, severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variantLucas Vieira Lacerda Pires, Renata de Almeida Bordim, Maria Beatriz Rabelo Maciel, et al.
American Journal of Medical Genetics. Part A|March 1, 2021
Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristicsRachel Sayuri Honjo, Matheus Augusto Araújo Castro, Suely Fazio Ferraciolli, et al.
Pageof 15