يعرض 1 - 10 نتائج من 205 نتيجة بحث عن '"Mutação genética"', وقت الاستعلام: 0.84s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Doença de Creutzfeldt-Jakob: Apresentação Atípica de uma Doença Muito Rara

    المؤلفون: Renato Oliveira, Marta Dias, Inês Brás Marques

    المصدر: Acta Médica Portuguesa, Vol 34, Iss 9 (2021)

    مصطلحات موضوعية: Mutação/genética, Priões/genética, Síndrome de Creutzfeldt-Jakob/diagnóstico, Síndrome de Creutzfeldt-Jakob/genética, Medicine, Medicine (General), R5-920

    وصف الملف: electronic resource

    Relation: https://actamedicaportuguesa.com/revista/index.php/amp/article/view/13117; https://doaj.org/toc/0870-399X; https://doaj.org/toc/1646-0758

    URL الوصول: https://doaj.org/article/5e27281326a84799b142719dc6d43912

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  2. 2
    Molecular Dynamics Analysis of Fast-Spreading Severe Acute Respiratory Syndrome Coronavirus 2 Variants and Their Effects on the Interaction with Human Angiotensin-Converting Enzyme 2

    المؤلفون: Anacleto Silva de Souza, Vitor Martins de Freitas Amorim, Gabriela D. A. Guardia, Felipe R. C. dos Santos, Filipe F. dos Santos, Robson Francisco de Souza, Guilherme de Araujo Juvenal, Yihua Huang, Pingju Ge, Yinan Jiang, Coco Li, Prajwal Paudel, Henning Ulrich, Pedro A. F. Galante, Cristiane Rodrigues Guzzo

    المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
    Universidade de São Paulo (USP)
    instacron:USP

    مصطلحات موضوعية: General Chemical Engineering, MUTAÇÃO GENÉTICA, General Chemistry

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fda50c166a72fa5a399212bb620a973
    https://doi.org/10.1021/acsomega.1c07240

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  3. 3
    Mutations in trpγ, the homologue of TRPC6 autism candidate gene, causes autism-like behavioral deficits in Drosophila

    المؤلفون: Angelina Palacios-Muñoz, Danielle de Paula Moreira, Valeria Silva, Isaac E. García, Francisco Aboitiz, Mehdi Zarrei, Gabriele Campos, Olivia Rennie, Jennifer L. Howe, Evdokia Anagnostou, Patricia Ambrozewic, Stephen W. Scherer, Maria Rita Passos-Bueno, John Ewer

    المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
    Universidade de São Paulo (USP)
    instacron:USP

    مصطلحات موضوعية: Male, Cellular and Molecular Neuroscience, Psychiatry and Mental health, Drosophila melanogaster, Autism Spectrum Disorder, Mutation, MUTAÇÃO GENÉTICA, TRPC6 Cation Channel, Animals, Female, Drosophila, Autistic Disorder, Molecular Biology

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73218a21d32fcb32fa3e40746823b2e8
    https://doi.org/10.1038/s41380-022-01555-1

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  4. 4
    Diagnóstico e tratamento da drepanocitose: novas metodologias

    المؤلفون: Nova, Bruno Miguel Pargana Vila

    المساهمون: Silva, Isabel Maria Júlio da, Camacho, Solange

    مصطلحات موضوعية: Terapêutica para anemia falciforme, Diagnóstico, Hemoglobina S, Drepanocitose, Hemoglobinopatias, Mutação genética, Anemia falciforme, Terapia genética, Ciências Médicas::Outras Ciências Médicas [Domínio/Área Científica]

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1505::58483bf0cacb4ac9a639dac3c8f96c69
    https://hdl.handle.net/10400.1/19072

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  5. 5
    دورية أكاديمية
    Análise da relação da ocorrência de polimorfismo de nucleotídeo único do gene DOCK9 em ceratocone

    المؤلفون: Reis, Leonardo Mariano, Rodrigues, Francisco W., Silva, Rodrigo Egídio da, Taleb, Alexandre Chater, Ávila, Marcos Pereira de

    المصدر: Revista Brasileira de Oftalmologia. June 2016 75(3)

    مصطلحات موضوعية: Ceratocone, Córnea, Mutação genética, Polimorfismo de nucleotídeo único

    وصف الملف: text/html

    URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72802016000300223

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  6. 6
    CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics

    المؤلفون: Tábata Takahashi França, Lucila Akune Barreiros, Ranieri Coelho Salgado, Sarah Maria da Silva Napoleão, Lillian Nunes Gomes, Janáira Fernandes Severo Ferreira, Carolina Prando, Cristina Worm Weber, Regina Sumiko Watanabe Di Gesu, Cecilia Montenegro, Carolina Sanchez Aranda, Gisele Kuntze, Aidé Tamara Staines-Boone, Edna Venegas-Montoya, Juan Carlos Aldave Becerra, Liliana Bezrodnik, Daniela Di Giovanni, Ileana Moreira, Gisela Analia Seminario, Andrea Cecilia Gómez Raccio, Mayra de Barros Dorna, Nelson Augusto Rosário-Filho, Herberto Jose Chong-Neto, Elisa de Carvalho, Milena Baptistella Grotta, Julio Cesar Orellana, Miguel Garcia Dominguez, Oscar Porras, Laura Sasia, Karina Salvucci, Emilio Garip, Luiz Fernando Bacarini Leite, Wilma Carvalho Neves Forte, Fernanda Pinto-Mariz, Ekaterini Goudouris, María Enriqueta Nuñez Nuñez, Magdalena Schelotto, Laura Berrón Ruiz, Diana Inés Liberatore, Hans D. Ochs, Otavio Cabral-Marques, Antonio Condino-Neto

    المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
    Universidade de São Paulo (USP)
    instacron:USP

    مصطلحات موضوعية: Cohort Studies, Latin America, MUTAÇÃO GENÉTICA, CD40 Ligand, Immunology, Immunologic Deficiency Syndromes, Humans, Immunology and Allergy, Retrospective Studies

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0789c2a68bd09e686b87ffa371e0d8fc
    https://doi.org/10.1007/s10875-021-01182-5

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  7. 7
    دورية أكاديمية
    Análise da relação da ocorrência de polimorfismo de nucleotídeo único do gene DOCK9 em ceratocone

    المؤلفون: Leonardo Mariano Reis, Francisco W. Rodrigues, Rodrigo Egídio da Silva, Alexandre Chater Taleb, Marcos Pereira de Ávila

    المصدر: Revista Brasileira de Oftalmologia, Vol 75, Iss 3, Pp 223-227 (2016)

    مصطلحات موضوعية: Ceratocone, Córnea, Mutação genética, Polimorfismo de nucleotídeo único, Ophthalmology, RE1-994

    وصف الملف: electronic resource

    Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72802016000300223&lng=en&tlng=en; https://doaj.org/toc/1982-8551

    URL الوصول: https://doaj.org/article/1c627cd3bb264ccca93bde5733f170e5

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  8. 8
    Screening of Variants in the Transcript Profile of Eutopic Endometrium from Infertile Women with Endometriosis during the Implantation Window

    المؤلفون: Michele Gomes Da Broi, Jessica Rodrigues Plaça, Wilson Araújo da Silva Jr, Rui Alberto Ferriani, Paula Andrea Navarro

    المصدر: Revista Brasileira de Ginecologia e Obstetrícia, Volume: 43, Issue: 6, Pages: 457-466, Published: 06 SEP 2021
    Revista Brasileira de Ginecologia e Obstetrícia, Vol 43, Iss 6, Pp 457-466 (2021)
    Revista Brasileira de Ginecologia e Obstetrícia v.43 n.6 2021
    Revista brasileira de ginecologia e obstetrícia
    Federação Brasileira das Sociedades de Ginecologia e Obstetrícia (FEBRASGO)
    instacron:FEBRASGO
    Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
    Universidade de São Paulo (USP)
    instacron:USP

    مصطلحات موضوعية: endometriosis, 0301 basic medicine, Infertility, Candidate gene, RNA-sequencing, Endometriosis, infertilidade, Context (language use), Disease, medicine.disease_cause, Endometrium, Andrology, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Humans, Medicine, Computer Simulation, Embryo Implantation, Prospective Studies, eutopic endometrium, Mutation, endometriose, 030219 obstetrics & reproductive medicine, Sequence Analysis, RNA, business.industry, MUTAÇÃO GENÉTICA, mutação, Obstetrics and Gynecology, Gynecology and obstetrics, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, sequenciamento de RNA, Case-Control Studies, RG1-991, Female, Receptors, Chemokine, endométrio eutópico, mutation, infertility, business, Infertility, Female

    وصف الملف: text/html

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b9a141b0cba3d0ba46eb518653c92da
    https://doi.org/10.1055/s-0041-1730287

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  9. 9
    The Impact of the Highly Virulent SARS-CoV-2 Gamma Variant on Young Adults in the State of São Paulo: Was It Inevitable?

    المؤلفون: Beny Spira

    المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
    Universidade de São Paulo (USP)
    instacron:USP

    مصطلحات موضوعية: MUTAÇÃO GENÉTICA, General Engineering

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25aa5d6fd3ca98e48abda1dbced2824a
    https://pubmed.ncbi.nlm.nih.gov/35919213

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  10. 10
    دورية أكاديمية
    Avanços na etiologia, no diagnóstico e no tratamento da puberdade precoce central

    المؤلفون: Macedo, Delanie B., Cukier, Priscilla, Mendonca, Berenice B., Latronico, Ana Claudia, Brito, Vinicius Nahime

    المصدر: Arquivos Brasileiros de Endocrinologia & Metabologia. March 2014 58(2)

    مصطلحات موضوعية: Puberdade precoce central, hamartomas, mutação genética, gonadotrofinas, análogos de GnRH

    وصف الملف: text/html

    URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302014000200108

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