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Guilherme L Yamamoto

Showing results (1-10 of 31) with videos related to

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Genetics and Molecular Biology|February 24, 2018
Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?José Rm Ceroni, Guilherme L Yamamoto, Rachel S Honjo, et al.
Genetics and Molecular Biology|December 16, 2014
c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian familyVitor G L Dantas, Karina Lezirovitz, Guilherme L Yamamoto, et al.
Journal of the Endocrine Society|March 14, 2022
Thyroid and Breast Cancer in 2 Sisters With Monoallelic Mutations in the Ataxia Telangiectasia Mutated (<i>ATM</i>) GeneFabíola Y Miasaki, Kelly C Saito, Guilherme L Yamamoto, 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.
Human Mutation|July 4, 2018
Rare RELN variants affect Reelin-DAB1 signal transduction in autism spectrum disorderSandra M Sánchez-Sánchez, Juliana Magdalon, Karina Griesi-Oliveira, et al.
Transplant Immunology|December 26, 2007
Donor bone marrow cells play a role in the prevention of accelerated graft rejection induced by semi-allogeneic spleen cells in transplantationLuciana V de Moraes, Valquiria Bueno, Ivo Marguti, et al.
Pediatric Pulmonology|August 4, 2017
A new insight into CFTR allele frequency in Brazil through next generation sequencingLuisa M Nunes, Roberto Ribeiro, Vivian D T Niewiadonski, et al.
BMC Research Notes|August 3, 2014
Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case reportThais Cuperman, Stephanie A Fernandes, Naila C V Lourenço, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|June 30, 2021
Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individualsMichel S Naslavsky, Marília O Scliar, Kelly Nunes, et al.
American Journal of Medical Genetics. Part A|August 16, 2014
Further evidence of the importance of RIT1 in Noonan syndromeDébora R Bertola, Guilherme L Yamamoto, Tatiana F Almeida, et al.
Pageof 4

Showing results (1-10 of 31) with videos related to

Sort By:
Pageof 4
Genetics and Molecular Biology|February 24, 2018
Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?José Rm Ceroni, Guilherme L Yamamoto, Rachel S Honjo, et al.
Genetics and Molecular Biology|December 16, 2014
c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian familyVitor G L Dantas, Karina Lezirovitz, Guilherme L Yamamoto, et al.
Journal of the Endocrine Society|March 14, 2022
Thyroid and Breast Cancer in 2 Sisters With Monoallelic Mutations in the Ataxia Telangiectasia Mutated (<i>ATM</i>) GeneFabíola Y Miasaki, Kelly C Saito, Guilherme L Yamamoto, 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.
Human Mutation|July 4, 2018
Rare RELN variants affect Reelin-DAB1 signal transduction in autism spectrum disorderSandra M Sánchez-Sánchez, Juliana Magdalon, Karina Griesi-Oliveira, et al.
Transplant Immunology|December 26, 2007
Donor bone marrow cells play a role in the prevention of accelerated graft rejection induced by semi-allogeneic spleen cells in transplantationLuciana V de Moraes, Valquiria Bueno, Ivo Marguti, et al.
Pediatric Pulmonology|August 4, 2017
A new insight into CFTR allele frequency in Brazil through next generation sequencingLuisa M Nunes, Roberto Ribeiro, Vivian D T Niewiadonski, et al.
BMC Research Notes|August 3, 2014
Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case reportThais Cuperman, Stephanie A Fernandes, Naila C V Lourenço, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|June 30, 2021
Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individualsMichel S Naslavsky, Marília O Scliar, Kelly Nunes, et al.
American Journal of Medical Genetics. Part A|August 16, 2014
Further evidence of the importance of RIT1 in Noonan syndromeDébora R Bertola, Guilherme L Yamamoto, Tatiana F Almeida, et al.
Pageof 4