অনুসন্ধান ফলাফলগুলি - Miguel Mitne‐Neto
- প্রদর্শন 1 - 20 ফলাফল এর 32
- পরবর্তী পৃষ্ঠায় যান
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Análise in vitro da esclerose lateral amiotrófica tipo 8 e estudo genético da paraplegia espástica 4 অনুযায়ী Miguel Mitne‐Neto
প্রকাশিত 2011Tese/Dissertação -
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Genética e Esclerose Lateral Amiotrófica অনুযায়ী Miguel Mitne‐Neto
প্রকাশিত 2019Artigo -
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Terapia Gênica: অনুযায়ী Miguel Mitne‐Neto, Mayana Zatz
প্রকাশিত 1999Artigo -
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JAK2-mutated acute myeloid leukemia: comparison of next-generation sequencing (NGS) and single nucleotide polymorphism array (SNPa) findings between two cases অনুযায়ী Thiago Rodrigo de Noronha, Miguel Mitne‐Neto, Maria de Lourdes Chauffaille
প্রকাশিত 2019Artigo -
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Molecular genetic tests for<i>JAK2</i>V617F, Exon12_<i>JAK2</i>and<i>MPL</i>W515K/L are highly informative in the evaluation of patients suspected to have BCR-ABL1-negative myelopr... অনুযায়ী Marcos Tadeu dos Santos, Miguel Mitne‐Neto, Kozue Miyashiro, Maria de Lourdes Chauffaille, Edgar Gil Rizzatti
প্রকাশিত 2013Artigo -
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Copy number variation in pituitary stalk interruption syndrome: A large case series of sporadic non‐syndromic patients and literature review অনুযায়ী Silvia R. Correa‐Silva, Ilda Kunii, Miguel Mitne‐Neto, Caroline Mônaco Moreira, Magnus R. Dias‐da‐Silva, Júlio Abucham
প্রকাশিত 2022Revisão -
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Mitochondrial dysfunction heightens the integrated stress response to drive ALS pathogenesis অনুযায়ী Curran Landry, James Costanzo, Miguel Mitne‐Neto, Mayana Zatz, Ashleigh E. Schaffer, Maria Hatzoglou, Alysson R. Muotri, Helen C. Miranda
প্রকাশিত 2024Pré-impressão -
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A Variant Detection Pipeline for Inherited Cardiomyopathy–Associated Genes Using Next-Generation Sequencing অনুযায়ী Théo Gremen Mimary de Oliveira, Miguel Mitne‐Neto, Louise Cerdeira, Júlia Daher Carneiro Marsiglia, Edmundo Arteaga-Fernández, José Eduardo Krieger, Alexandre C. Pereira
প্রকাশিত 2015Artigo -
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The p.P56S mutation in the <i>VAPB</i> gene is not due to a single founder: the first European case অনুযায়ী A. Funke, Marc Esser, Alexander Krüttgen, Joachim Weis, Miguel Mitne‐Neto, Monize Lazar, Agnes L. Nishimura, AD Sperfeld, P Trillenberg, Jan Senderek, Michael Krasnianski, Mayana Zatz, S. Zierz, Marcus Deschauer
প্রকাশিত 2010Carta -
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A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis অনুযায়ী Agnes L. Nishimura, Miguel Mitne‐Neto, Helga Cristina Almeida da Silva, Antônio Richieri‐Costa, Susan Middleton, Duilio Cascio, Fernando Kok, João Ricardo Mendes de Oliveira, Thomas H. Gillingwater, Jeanette Webb, Paul Skehel, Mayana Zatz
প্রকাশিত 2004Artigo -
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DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland অনুযায়ী Marina M. L. Kizys, Ruy A. Louzada, Miguel Mitne‐Neto, Jessica R Jara, Gilberto K. Furuzawa, Denise Pires de Carvalho, Magnus R. Dias‐da‐Silva, Suzana Nesi-França, Corinne Dupuy, Rui M. B. Maciel
প্রকাশিত 2017Artigo -
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Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology অনুযায়ী Ana Lígia Buzolin, Caroline Mônaco Moreira, Patricia Rossi Sacramento, Andre Yuji Oku, Alexandre Ricardo dos Santos Fornari, David Santos Marco Antônio, Caio Robledo D’Angioli Costa Quaio, Wagner Antonio da Rosa Baratela, Miguel Mitne‐Neto
প্রকাশিত 2017Artigo -
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Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients অনুযায়ী Miguel Mitne‐Neto, Marcela Câmara Machado‐Costa, Maria C. Marchetto, Mário Henrique Bengtson, Claudio A.P. Joazeiro, Hiroshi Tsuda, Hugo J. Bellen, Helga Cristina Almeida da Silva, Acary Souza Bullé Oliveira, Monize Lazar, Alysson R. Muotri, Mayana Zatz
প্রকাশিত 2011Artigo -
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Genetic risk factors and COVID-19 severity in Brazil: results from BRACOVID study অনুযায়ী Alexandre C. Pereira, Taniela Marli Bes, Mariliza Velho, Emanuelle Marques, Cintia E Jannes, Karina Ramos Valino, Carla Luana Dinardo, Sílvia Figueiredo Costa, Alberto J. S. Duarte, Alexandre Rosa dos Santos, Miguel Mitne‐Neto, José Medina‐Pestana, José Eduardo Krieger
প্রকাশিত 2022Revisão -
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A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree অনুযায়ী Miguel Mitne‐Neto, Fernando Kok, Christian Beetz, André Luiz Santos Pessoa, Clarissa Bueno, Zódja Graciani, Marcília Lima Martyn, Carlos Bandeira de Mello Monteiro, Guilherme Mitne, Paulo Hubert, Anders O.H. Nygren, Marcos Valadares, Antonia Cerqueira, Alessandra Starling, Thomas Deufel, Mayana Zatz
প্রকাশিত 2007Artigo -
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Genetic risk factors and Covid-19 severity in Brazil: results from BRACOVID Study অনুযায়ী Alexandre C. Pereira, Taniela Marli Bes, Mariliza Velho, Emanuelle Marques, Cintia E Jannes, Karina Ramos Valino, Carla Luana Dinardo, Sílvia Figueiredo Costa, Alberto José da Silva Duarte, Alexandre Ricardo dos Santos, Miguel Mitne‐Neto, José Medina‐Pestana, José Eduardo Krieger
প্রকাশিত 2021Pré-impressão -
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Evaluation of pathogenic variants detected in high homology regions of the PMS2 gene. How effective is long-range PCR? অনুযায়ী Daniele Paixão, Thálitta H. A. Lima, Rafaela Rogério Floriano de Souza, Juliana Emilia Prior Carnavalli, Clarissa Gondim Picanço-Albuquerque, Isabelle Joyce de Lima Silva‐Fernandes, Paulo Goberlânio de Barros Silva, Miguel Mitne‐Neto, Caroline Mônaco Moreira, Wagner Antônio da Rosa Baratela
প্রকাশিত 2024Artigo -
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A novel RT-LAMP workflow for rapid salivary diagnostics of COVID-19 and effects of age, gender and time from symptom onset অনুযায়ী Gerson Shigeru Kobayashi, Luciano Abreu Brito, Danielle de Paula Moreira, Ângela May Suzuki, Gabriella Shih Ping Hsia, Lylyan Fragoso Pimentel, Ana Paula Barreto de Paiva, Carolina Regoli Dias, Naila Cristina Vilaça Lourenço, Beatriz Araújo Oliveira, Erika R. Manuli, Marcelo Andreetta Corral, Natale Cavaçana, Miguel Mitne‐Neto, Maria Mirtes Sales, Luiz Phellipe Dell Aquila, Álvaro Razuk Filho, Eduardo Fagundes Parrillo, Maria Cássia Mendes-Corrêa, Éster Cerdeira Sabino, Sílvia Figueiredo Costa, Fábio E. Leal, Germán G. Sgro, Chuck S. Farah, Mayana Zatz, Maria Rita Passos‐Bueno
প্রকাশিত 2021Pré-impressão
অনুসন্ধান সাধনীগুলি:
সম্পর্কিত বিষয়
Biology
Medicine
Genetics
Gene
Internal medicine
Disease
Genotype
Amyotrophic lateral sclerosis
Mutation
Single-nucleotide polymorphism
Computational biology
Pathology
Coronavirus disease 2019 (COVID-19)
Genome-wide association study
Immunology
Infectious disease (medical specialty)
Neuroscience
Virology
Phenotype
Bioinformatics
Computer science
DNA sequencing
Gene expression
Genome
Haplotype
Psychology
Asymptomatic
Cell biology
Embryonic stem cell
Endocrinology