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1دورية أكاديمية
المؤلفون: Danielle de Paula Moreira, Angela May Suzuki, André Luiz Teles e Silva, Elisa Varella-Branco, Maria Cecília Zorél Meneghetti, Gerson Shigeru Kobayashi, Mariana Fogo, Merari de Fátima Ramires Ferrari, Rafaela Regina Cardoso, Naila Cristina Vilaça Lourenço, Karina Griesi-Oliveira, Elaine Cristina Zachi, Débora Romeo Bertola, Karina de Souza Weinmann, Marcelo Andrade de Lima, Helena Bonciani Nader, Andrea Laurato Sertié, Maria Rita Passos-Bueno
المصدر: Frontiers in Cellular Neuroscience, Vol 15 (2022)
مصطلحات موضوعية: STAM, early secretory pathway, vesicle trafficking, autophagy, GM130, clathrin, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Vanessa Luiza Romanelli Tavares, Frederico Monfardini, Naila Cristina Vilaça Lourenço, Katia Maria da Rocha, Karina Weinmann, Rita Pavanello, Mayana Zatz
المصدر: International Journal of Neonatal Screening, Vol 7, Iss 3, p 53 (2021)
مصطلحات موضوعية: spinal muscular atrophy, screening test, neonatal screening, SMN1, real-time PCR, genetic diagnosis, Pediatrics, RJ1-570
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Gerson Shigeru Kobayashi, Luciano Abreu Brito, Danielle de Paula Moreira, Angela May Suzuki, Gabriella Shih Ping Hsia, Lylyan Fragoso Pimentel, Ana Paula Barreto de Paiva, Carolina Regoli Dias, Naila Cristina Vilaça Lourenço, Beatriz Araujo Oliveira, Erika Regina Manuli, Marcelo Andreetta Corral, Natale Cavaçana, Miguel Mitne-Neto, Maria Mirtes Sales, Luiz Phellipe Dell’ Aquila, Alvaro Razuk Filho, Eduardo Fagundes Parrillo, Maria Cássia Mendes-Corrêa, Ester Cerdeira Sabino, Silvia Figueiredo Costa, Fabio Eudes Leal, Germán Gustavo Sgro, Chuck Shaker Farah, Mayana Zatz, Maria Rita Passos-Bueno
المصدر: Diagnostics, Vol 11, Iss 8, p 1400 (2021)
مصطلحات موضوعية: LAMP (loop-mediated isothermal amplification) assay, 2019 novel coronavirus, saliva, viral diagnostics, Medicine (General), R5-920
وصف الملف: electronic resource
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4
المؤلفون: Silvia S. Costa, Naila Cristina Vilaça Lourenço, Eloisa de Sá Moreira, Isabela Maya Wahys Silva, Ana Cristina Victorino Krepischi, Elaine Cristina Zachi, Angela Maria Vianna-Morgante, Eduarda Morgana da Silva Montenegro, Mehdi Zarrei, Claudia Ismania Samogy Costa, Elisa Varella Branco, Maria Rita Passos-Bueno, Stephen W. Scherer, Jaqueline Yu Ting Wang, Marilia O. Scliar, Carla Rosenberg
المصدر: Clinical Genetics. 101:134-141
مصطلحات موضوعية: Adult, Male, Adolescent, DNA Copy Number Variations, Autism Spectrum Disorder, Genetic counseling, Genomics, Biology, Young Adult, Neurodevelopmental disorder, mental disorders, Cell Adhesion, Genetics, medicine, Humans, Microarray databases, Genetic Predisposition to Disease, Copy-number variation, Child, Alleles, Genetic Association Studies, Genetics (clinical), Comparative Genomic Hybridization, Chromosome Mapping, Infant, medicine.disease, Phenotype, Autism spectrum disorder, Child, Preschool, Cohort, Autism, Female, Brazil
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5
المؤلفون: Elaine Cristina Zachi, Tatiana F. Almeida, Guilherme L. Yamamoto, Gabriele Campos, Mehdi Zarrei, Ada J.S. Chan, Eduarda Morgana da Silva Montenegro, Marilia O. Scliar, Isabela Maya Wahys Silva, Maria Rita Passos-Bueno, Claudia Ismania Samogy Costa, Stephen W. Scherer, Naila Cristina Vilaça Lourenço
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USPمصطلحات موضوعية: Adult, Male, Proband, Candidate gene, Adolescent, DNA Copy Number Variations, Autism Spectrum Disorder, Population, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, mental disorders, CACNA1H, medicine, Humans, Exome, Genetic Predisposition to Disease, 0501 psychology and cognitive sciences, Copy-number variation, Child, education, Genetics (clinical), Genetics, education.field_of_study, biology, General Neuroscience, MUTAÇÃO GENÉTICA, 05 social sciences, Exons, medicine.disease, Autism spectrum disorder, Child, Preschool, biology.protein, Autism, Female, Neurology (clinical), Chromosome Deletion, Brazil, 030217 neurology & neurosurgery, 050104 developmental & child psychology
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6
المؤلفون: Claudia Ismania Samogy Costa, Elisa Varella Branco, Ana Cristina Victorino Krepischi, Stephen W. Scherer, Silvia S. Costa, Maria Rita Passos-Bueno, Mehdi Zarrei, Jaqueline Yu Ting Wang, Angela Maria Vianna-Morgante, Marilia O. Scliar, Isabela Maya Wahys Silva, Carla Rosenberg, Naila Cristina Vilaça Lourenço, Elaine Cristina Zachi, Eduarda Morgana da Silva Montenegro, Eloisa de Sá Moreira
مصطلحات موضوعية: Genetics, Cohort, medicine, Autism, Copy-number variation, Biology, medicine.disease, Cell adhesion, Gene
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b6ec641422d310e6cefef5bcbffe037d
https://doi.org/10.1111/cge.14072/v2/response1 -
7
المؤلفون: Mayana Zatz, Rita de Cássia M. Pavanello, Vanessa Luiza Romanelli Tavares, Karina Weinmann, Frederico Monfardini, Naila Cristina Vilaça Lourenço, Kátia Maria da Rocha
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
International Journal of Neonatal Screening
Volume 7
Issue 3
International Journal of Neonatal Screening, Vol 7, Iss 53, p 53 (2021)مصطلحات موضوعية: SMN1, medicine.medical_specialty, Computer science, Concordance, Context (language use), Pediatrics, RJ1-570, Article, genetic diagnosis, Immunology and Microbiology (miscellaneous), medicine, neonatal screening, Medical physics, Multiplex, Dried blood, health care economics and organizations, screening test, spinal muscular atrophy, Protocol (science), Newborn screening, Obstetrics and Gynecology, Spinal muscular atrophy, SMA, medicine.disease, GENÉTICA MÉDICA, Pediatrics, Perinatology and Child Health, real-time PCR
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5933054f265ed1ed85316aa12a90bf5a
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8
المؤلفون: Eliete Pardono, Naila Cristina Vilaça Lourenço, Paulo Alberto Otto, Leandro Ucela Alves, Regina Célia Mingroni-Netto, Humberto Vicente Cezar Marcolino, Uirá Souto Melo, Magnolia Astrid Pretell Bocangel
المصدر: European Journal of Medical Genetics. 61:348-354
مصطلحات موضوعية: Male, 0301 basic medicine, Proband, DNA Copy Number Variations, SOX10, Germline mosaicism, Biology, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Genetics, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Waardenburg Syndrome, Multiplex ligation-dependent probe amplification, Indel, Genetics (clinical), Sequence Deletion, Sanger sequencing, Mosaicism, Waardenburg syndrome, Exons, Sequence Analysis, DNA, General Medicine, medicine.disease, 030104 developmental biology, Mutation, symbols, Female, Brazil, 030217 neurology & neurosurgery
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9
المؤلفون: Natale Cavaçana, Naila Cristina Vilaça Lourenço, Marcelo Andreetta Corral, Maria Cassia Mendes-Correa, Luciano Abreu Brito, Gabriella Shih Ping Hsia, Erika R. Manuli, Alvaro Razuk Filho, Chuck S. Farah, Ana Paula Barreto de Paiva, Maria Mirtes Sales, Beatriz Araujo Oliveira, Luiz Phellipe Dell' Aquila, Miguel Mitne-Neto, Angela May Suzuki, Maria Rita Passos-Bueno, Mayana Zatz, Lylyan Fragoso Pimentel, Germán G. Sgro, Gerson Shigeru Kobayashi, Carolina Regoli Dias, Eduardo Fagundes Parrillo, Danielle de Paula Moreira, Ester Cerdeira Sabino, Fabio E. Leal, Silvia Figueiredo Costa
المصدر: Diagnostics, Vol 11, Iss 1400, p 1400 (2021)
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Diagnostics
Volume 11
Issue 8مصطلحات موضوعية: 0301 basic medicine, Medicine (General), Saliva, Coronavirus disease 2019 (COVID-19), viral diagnostics, Clinical Biochemistry, NOP, Loop-mediated isothermal amplification, Article, law.invention, 03 medical and health sciences, R5-920, 0302 clinical medicine, law, Medicine, 030212 general & internal medicine, 2019 novel coronavirus, saliva, LAMP (loop-mediated isothermal amplification) assay, business.industry, TRANSMISSÃO DE DOENÇAS, 030104 developmental biology, Transmission (mechanics), Immunology, Viral spread, business, Viral load, Kappa
وصف الملف: application/pdf
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10
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 Disordersمصطلحات 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
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7cac4e566313f2e69c27272b3017b35