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Miguel Mitne-Neto

Showing results (11-20 of 29) with videos related to

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Journal of Molecular Neuroscience : MN|March 5, 2004
Lack of association between the brain-derived neurotrophin factor (C-270T) polymorphism and late-onset Alzheimer's disease (LOAD) in Brazilian patientsAgnes L Nishimura, João R M Oliveira, Miguel Mitne-Neto, et al.
American Journal of Human Genetics|September 17, 2004
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosisAgnes L Nishimura, Miguel Mitne-Neto, Helga C A Silva, et al.
Genome Announcements|April 5, 2014
Complete Genome Sequence of an F8-Like Lytic Myovirus ({varphi}SPM-1) That Infects Metallo-β-Lactamase-Producing Pseudomonas aeruginosaPatrícia R Neves, Louise T Cerdeira, Miguel Mitne-Neto, et al.
Human Genomics|June 28, 2017
Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technologyAna Lígia Buzolin, Caroline Mônaco Moreira, Patricia Rossi Sacramento, et al.
The Journal of Clinical Endocrinology and Metabolism|July 2, 2017
DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid GlandMarina M L Kizys, Ruy A Louzada, Miguel Mitne-Neto, et al.
Human Molecular Genetics|June 21, 2011
Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patientsMiguel Mitne-Neto, Marcela Machado-Costa, Maria C N Marchetto, et al.
Human Molecular Genetics|April 3, 2022
Genetic risk factors and COVID-19 severity in Brazil: results from BRACOVID studyAlexandre C Pereira, Taniela M Bes, Mariliza Velho, et al.
European Journal of Human Genetics : EJHG|September 27, 2007
A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigreeMiguel Mitne-Neto, Fernando Kok, Christian Beetz, et al.
Frontiers in Oncology|July 3, 2024
Evaluation of pathogenic variants detected in high homology regions of the <i>PMS2</i> gene. How effective is long-range PCR?Daniele Paixão, Thalitta Hetamaro Ayala Lima, Rafaela Rogério Floriano de Souza, et al.
Journal of Neuroendocrinology|November 12, 2018
A novel GNRHR gene mutation causing congenital hypogonadotrophic hypogonadism in a Brazilian kindredSilvia Regina Correa-Silva, Jessica da Silva Fausto, Marina Malta Letro Kizys, et al.
Pageof 3

Showing results (11-20 of 29) with videos related to

Sort By:
Pageof 3
Journal of Molecular Neuroscience : MN|March 5, 2004
Lack of association between the brain-derived neurotrophin factor (C-270T) polymorphism and late-onset Alzheimer's disease (LOAD) in Brazilian patientsAgnes L Nishimura, João R M Oliveira, Miguel Mitne-Neto, et al.
American Journal of Human Genetics|September 17, 2004
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosisAgnes L Nishimura, Miguel Mitne-Neto, Helga C A Silva, et al.
Genome Announcements|April 5, 2014
Complete Genome Sequence of an F8-Like Lytic Myovirus ({varphi}SPM-1) That Infects Metallo-β-Lactamase-Producing Pseudomonas aeruginosaPatrícia R Neves, Louise T Cerdeira, Miguel Mitne-Neto, et al.
Human Genomics|June 28, 2017
Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technologyAna Lígia Buzolin, Caroline Mônaco Moreira, Patricia Rossi Sacramento, et al.
The Journal of Clinical Endocrinology and Metabolism|July 2, 2017
DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid GlandMarina M L Kizys, Ruy A Louzada, Miguel Mitne-Neto, et al.
Human Molecular Genetics|June 21, 2011
Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patientsMiguel Mitne-Neto, Marcela Machado-Costa, Maria C N Marchetto, et al.
Human Molecular Genetics|April 3, 2022
Genetic risk factors and COVID-19 severity in Brazil: results from BRACOVID studyAlexandre C Pereira, Taniela M Bes, Mariliza Velho, et al.
European Journal of Human Genetics : EJHG|September 27, 2007
A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigreeMiguel Mitne-Neto, Fernando Kok, Christian Beetz, et al.
Frontiers in Oncology|July 3, 2024
Evaluation of pathogenic variants detected in high homology regions of the <i>PMS2</i> gene. How effective is long-range PCR?Daniele Paixão, Thalitta Hetamaro Ayala Lima, Rafaela Rogério Floriano de Souza, et al.
Journal of Neuroendocrinology|November 12, 2018
A novel GNRHR gene mutation causing congenital hypogonadotrophic hypogonadism in a Brazilian kindredSilvia Regina Correa-Silva, Jessica da Silva Fausto, Marina Malta Letro Kizys, et al.
Pageof 3