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L Yamamoto

Showing results (131-140 of 161) with videos related to

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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.
American Journal of Human Genetics|June 5, 2012
Somatic mosaic activating mutations in PIK3CA cause CLOVES syndromeKyle C Kurek, Valerie L Luks, Ugur M Ayturk, et al.
Genes|November 27, 2025
Rare Duplication in the <i>RYR1</i> Gene Causing Malignant Hyperthermia and Clinical VariabilityBrandow W Souza, Guilherme L Yamamoto, Isabela A Zogbi, et al.
Clinical Genetics|November 8, 2017
Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrumD R Bertola, G Hsia, L Alvizi, et al.
Journal of the American Academy of Orthopaedic Surgeons. Global Research & Reviews|May 14, 2021
Evidence-based Risk Stratification for Sport Medicine Procedures During the COVID-19 PandemicBetina B Hinckel, Charles A Baumann, Leandro Ejnisman, et al.
International Endodontic Journal|December 10, 2020
IgG4-positive plasma cells are more often detected in chronic periapical lesions arising from permanent rather than primary teethX B J Polanco, A S Bertasso, H A Silveira, et al.
American Journal of Human Genetics|January 7, 2014
Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophyGuilherme L Yamamoto, Wagner A R Baratela, Tatiana F Almeida, et al.
BMC Genomics|July 1, 2020
Structural variation of the malaria-associated human glycophorin A-B-E regionSandra Louzada, Walid Algady, Eleanor Weyell, et al.
Pageof 17

Showing results (131-140 of 161) with videos related to

Sort By:
Pageof 17
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.
American Journal of Human Genetics|June 5, 2012
Somatic mosaic activating mutations in PIK3CA cause CLOVES syndromeKyle C Kurek, Valerie L Luks, Ugur M Ayturk, et al.
Genes|November 27, 2025
Rare Duplication in the <i>RYR1</i> Gene Causing Malignant Hyperthermia and Clinical VariabilityBrandow W Souza, Guilherme L Yamamoto, Isabela A Zogbi, et al.
Clinical Genetics|November 8, 2017
Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrumD R Bertola, G Hsia, L Alvizi, et al.
Journal of the American Academy of Orthopaedic Surgeons. Global Research & Reviews|May 14, 2021
Evidence-based Risk Stratification for Sport Medicine Procedures During the COVID-19 PandemicBetina B Hinckel, Charles A Baumann, Leandro Ejnisman, et al.
International Endodontic Journal|December 10, 2020
IgG4-positive plasma cells are more often detected in chronic periapical lesions arising from permanent rather than primary teethX B J Polanco, A S Bertasso, H A Silveira, et al.
American Journal of Human Genetics|January 7, 2014
Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophyGuilherme L Yamamoto, Wagner A R Baratela, Tatiana F Almeida, et al.
BMC Genomics|July 1, 2020
Structural variation of the malaria-associated human glycophorin A-B-E regionSandra Louzada, Walid Algady, Eleanor Weyell, et al.
Pageof 17