نتائج البحث - "DELEÇÃO DE GENES"

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دورية أكاديمية

Síndrome da deleção 2q37.3 – A primeira descrição de achados orais, relato de caso

المؤلفون: Carolina Maschietto Pucinelli, Raquel Assed Bezerra Segato, Paulo Nelson-Filho, Léa Assed Bezerra da Silva, Vivian Vicentin Massoni, Clara Marina Pereira Cavalcanti Silva, Alexandra Mussolino de Queiroz

المصدر: Revista da Faculdade de Odontologia de Porto Alegre, Vol 62, Iss 1, Pp 162-172 (2021)

مصطلحات موضوعية: doenças raras, síndrome, deleção de genes, saúde bucal, relatos de casos, Dentistry, RK1-715

وصف الملف: electronic resource

Relation: https://seer.ufrgs.br/RevistadaFaculdadeOdontologia/article/view/107564; https://doaj.org/toc/0566-1854; https://doaj.org/toc/2177-0018

URL الوصول: https://doaj.org/article/484e82124fba4318b83a8eb664c3297c

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Síndrome da deleção 2q37.3 – A primeira descrição de achados orais, relato de caso

المؤلفون: Alexandra Mussolino de Queiroz, Paulo Nelson-Filho, Carolina Maschietto Pucinelli, Clara Marina Pereira Cavalcanti Silva, Raquel Assed Bezerra Segato, Vivian Vicentin Massoni, Léa Assed Bezerra da Silva

المصدر: Revista da Faculdade de Odontologia de Porto Alegre, Vol 62, Iss 1, Pp 162-172 (2021)
Revista da Faculdade de Odontologia de Porto Alegre; v. 62, n. 1 (2021); 162-172

مصطلحات موضوعية: Gynecology, medicine.medical_specialty, saúde bucal, business.industry, síndrome, RK1-715, deleção de genes, Microbiology, stomatognathic diseases, Rare diseases, Syndrome, Gene deletion, Oral health, Case reports, Doenças raras, Síndrome, Deleção de genes, Saúde bucal, Relatos de casos, Dentistry, medicine, doenças raras, business, relatos de casos

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8d64b8667efecd4525400873850e86c
https://doi.org/10.22456/2177-0018.107564

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دورية أكاديمية

Análise do gene PTEN por hibridização in situ fluorescente no carcinoma de células renais

المؤلفون: Campos, Eurico Cleto Ribeiro de, Fonseca, Francisco Paulo da, Zequ, Stênio de Cássio, Guimarães, Gustavo Cardoso, Soares, Fernando Augusto, Lopes, Ademar

المصدر: Revista do Colégio Brasileiro de Cirurgiões. December 2013 40(6)

مصطلحات موضوعية: Deleção de genes, PTEN Fosfo-hidrolase, Hibridização in situ fluorescente, Carcinoma de células renais, Taxa de sobrevida

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-69912013000600009

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Mutagênese sítio/dirigida em uma linhagem de Escherichia coli (APEC) causadora de síndrome da cabeça inchada em aves

المؤلفون: Paiva, Jacqueline Boldrin de, 1984

المساهمون: Dias da Silveira, Wanderley, 1956, Brocchi, Marcelo, 1967, Sircili, Marcelo Palma, Elias, Waldir Pereira, Azevedo, Vasco Ariston de Carvalho, Yano, Tomomasa, Universidade Estadual de Campinas. Instituto de Biologia, Programa de Pós-Graduação em Genética e Biologia Molecular, UNIVERSIDADE ESTADUAL DE CAMPINAS

المصدر: Biblioteca Digital de Teses e Dissertações da Universidade Estadual de Campinas (UNICAMP)
Universidade Estadual de Campinas (UNICAMP)
instacron:UNICAMP

مصطلحات موضوعية: Ave, Gene deletion, Bird, Escherichia coli - Pathogenicity, Colibacilosis, Deleção de genes, Escherichia coli - Patogenicidade, Avian pathogenic Escherichia coli, Colibacilose, Escherichia coli patogenica aviaria

وصف الملف: application/pdf; 120 p. : il.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a6e497a06a8abad32447b65e787cef9
https://doi.org/10.47749/t/unicamp.2014.931423

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Partial Monosomy 4p and Trisomy 12q due to a t(4;12)(p16.3;q24.31) Familial Translocation in Two Cousins

المؤلفون: Carlos Henrique Paiva Grangeiro, A. G. Gomes, Flávia Gaona de Oliveira Gennaro, Jeremy A. Squire, Lúcia Regina Martelli, T. M. Joaquim

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

مصطلحات موضوعية: Genetics, 0303 health sciences, Monosomy, Derivative chromosome, 030305 genetics & heredity, Short Report, DELEÇÃO DE GENES, Chromosomal translocation, Context (language use), Biology, medicine.disease, 03 medical and health sciences, medicine, Global developmental delay, Trisomy, Haploinsufficiency, Wolf–Hirschhorn syndrome, Genetics (clinical), 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dded1288ec342c3567e0d20d208fd877
https://doi.org/10.1159/000501923

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Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment

المؤلفون: Kok, Fernando

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

مصطلحات موضوعية: DELEÇÃO DE GENES

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3056::169a2bfc7ba67be2e543b5b1f3434e49
http://observatorio.fm.usp.br/handle/OPI/33516

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A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype- phenotype correlation and identification of an atypical case

المؤلفون: Ricardo Henrique Almeida Barbosa, Helen Conceição Ferraz, Ana Beatriz Alvarez Perez, Carla Rosenberg, Claudia Ismania Samogy-Costa, Rodrigo Ambrosio Fock, Maria Rita Passos-Bueno, André Pessoa, Frederico Monfardini, Elisa Varella-Branco, Maria D. Vibranovski, Ana Cristina Victorino Krepischi, Naila Cristina Vilaça Lourenço

المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-10 (2019)
Journal of Neurodevelopmental Disorders

مصطلحات موضوعية: Male, Pediatrics, Chromosomes, Human, Pair 22, Chromosome Disorders, Cohort Studies, 0302 clinical medicine, Intellectual disability, Global developmental delay, Copy-number variation, Autism spectrum disorder, Child, SHANK3, 05 social sciences, Genetic disorder, Hypotonia, Child, Preschool, Cohort, Female, Chromosome Deletion, medicine.symptom, Haploinsufficiency, Brazil, 050104 developmental & child psychology, Adult, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, 22q13.3 deletion syndrome, Cognitive Neuroscience, Nerve Tissue Proteins, lcsh:RC321-571, Pathology and Forensic Medicine, Young Adult, 03 medical and health sciences, medicine, Humans, 0501 psychology and cognitive sciences, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Genetic Association Studies, business.industry, Research, Infant, DELEÇÃO DE GENES, medicine.disease, Pediatrics, Perinatology and Child Health, Phelan-McDermid syndrome, Neurology (clinical), business, 030217 neurology & neurosurgery