المؤلفون: Caio Robledo D’Angioli Costa Quaio, José Ricardo Magliocco Ceroni, Michele Araújo Pereira, Anne Caroline Barbosa Teixeira, Renata Yoshiko Yamada, Vivian Pedigone Cintra, Eduardo Perrone, Marina De França, Kelin Chen, Renata Moldenhauer Minillo, Cheysa Arielly Biondo, Mariana Rezende Bandeira de Mello, Lais Rodrigues Moura, Amanda Thamires Batista do Nascimento, Karla de Oliveira Pelegrino, Larissa Barbosa de Lima, Luiza do Amaral Virmond, Carolina Araujo Moreno, Joana Rosa Marques Prota, Jessica Grasiela de Araujo Espolaor, Thiago Yoshinaga Tonholo Silva, Gabriel Hideki Izuka Moraes, Gustavo Santos de Oliveira, Livia Maria Silva Moura, Marcel Pinheiro Caraciolo, Rafael Lucas Muniz Guedes, Michel Chieregato Gretschischkin, Pedro Lui Nigro Chazanas, Carolina Naomi Izo Nakamura, Rodrigo de Souza Reis, Carmen Melo Toledo, Fernanda Stussi Duarte Lage, Giovanna Bloise de Almeida, José Bandeira do Nascimento Júnior, Milena Andreuzo Cardoso, Victor de Paula Azevedo, Tatiana Ferreira de Almeida, Murilo Castro Cervato, Joao Bosco de Oliveira Filho

المصدر: Human Genomics, Vol 17, Iss 1, Pp 1-15 (2023)

مصطلحات موضوعية: Variant classification, Sequence variant, Genetic testing, Genomics, Guideline, Brazil, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/0c95d03f938a4487814f7372787d1492

المؤلفون: Caio Robledo D’Angioli Costa Quaio, María José Rivadeneira Obando, Sandro Felix Perazzio, Aurelio Pimenta Dutra, Christine Hsiaoyun Chung, Caroline Monaco Moreira, Gil Monteiro Novo Filho, Patricia Rossi Sacramento-Bobotis, Michele Groenner Penna, Rafaela Rogerio Floriano de Souza, Vivian Pedigone Cintra, Juliana Emilia Prior Carnavalli, Rafael Alves da Silva, Monize Nakamoto Provisor Santos, Daniele Paixão, Wagner Antonio da Rosa Baratela, Caroline Olivati, Gustavo Marquezani Spolador, Maria Carolina Pintao, Alexandre Ricardo dos Santos Fornari, Matheus Burger, Rodrigo Fernandes Ramalho, Otavio Jose Eulalio Pereira, Elisa Napolitano e Ferreira, Miguel Mitne-Neto, Chong Ae Kim

المصدر: Genetics and Molecular Biology, Vol 44, Iss 4 (2021)

مصطلحات موضوعية: Exome sequencing, Next-generation sequencing, targeted gene panels, diagnostic yield, NGS panel, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572021000600102&tlng=en; https://doaj.org/toc/1678-4685

URL الوصول: https://doaj.org/article/97c8f41074ef4568b2175fd4c558f870

المؤلفون: Vinicius Stefani Borghetti, Vívian Pedigone Cintra, Jean de Oliveira Ramos, Vanessa Daccach Marques, Patrícia Toscano Onofre, Victor Augusto Souza Santana, Lua Flora Pereira Bezerra, Pedro José Tomaselli, André Cleriston José dos Santos, Claudia Ferreira da Rosa Sobreira, Wilson Marques Jr

المصدر: Arquivos de Neuro-Psiquiatria, Vol 80, Iss 07, Pp 676-680 (2022)

مصطلحات موضوعية: amyotrophic lateral sclerosis, motor neuron disease, diagnostic errors, unnecessary procedures, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

Relation: https://doaj.org/toc/0004-282X; https://doaj.org/toc/1678-4227; https://doaj.org/article/814c4ceee85b4871b735355499162877

الاتاحة: https://doi.org/10.1055/s-0042-1755224
https://doaj.org/article/814c4ceee85b4871b735355499162877

المؤلفون: Matheus Carvalho Bürger, Patricia Rossi Sacramento-Bobotis, Sandro Félix Perazzio, Monize Nakamoto Provisor Santos, Rafaela Rogerio Floriano de Souza, Vivian Pedigone Cintra, Chong Ae Kim, Gustavo Marquezani Spolador, Michele Groenner Penna, Miguel Mitne-Neto, Maria Carolina Pintao, Rodrigo Fernandes Ramalho, Gil Monteiro Novo Filho, Wagner A.R. Baratela, Christine Hsiaoyun Chung, Caroline Monaco Moreira, Otavio Jose Eulalio Pereira, Aurelio Pimenta Dutra, Alexandre Ricardo dos Santos Fornari, Rafael Alves da Silva, Daniele Paixão, Caroline Olivati, Caio Robledo D'Angioli Costa Quaio, Elisa Napolitano Ferreira, Juliana Emilia Prior Carnavalli

المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 187:364-372

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Hearing loss, Disease, medicine.disease, Cohort Studies, Epilepsy, symbols.namesake, Rare Diseases, Intellectual Disability, Exome Sequencing, Cohort, Epidemiology, Genetics, Mendelian inheritance, symbols, Humans, Medicine, medicine.symptom, business, Mendelian disorders, Brazil, Genetics (clinical), Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fd32bc40c0e902546254bf724a82a06
https://doi.org/10.1002/ajmg.c.31932

المؤلفون: Gil Monteiro Novo Filho, Maria Carolina Pintao, Caroline Monaco Moreira, Otavio Jose Eulalio Pereira, Caroline Olivati, Caio Robledo D'Angioli Costa Quaio, Juliana Emilia Prior Carnavalli, María José Rivadeneira Obando, Patricia Rossi Sacramento-Bobotis, Chong Ae Kim, Aurelio Pimenta Dutra, Rodrigo Fernandes Ramalho, Elisa Napolitano Ferreira, Matheus Carvalho Bürger, Miguel Mitne-Neto, Vivian Pedigone Cintra, Sandro Félix Perazzio, Gustavo Marquezani Spolador, Christine Hsiaoyun Chung, Rafael Alves da Silva, Monize Nakamoto Provisor Santos, Rafaela Rogerio Floriano de Souza, Michele Groenner Penna, Wagner A.R. Baratela, Alexandre Ricardo dos Santos Fornari, Daniele Paixão

المصدر: Genetics and Molecular Biology, Volume: 44, Issue: 4, Article number: 20210061, Published: 29 SEP 2021
Genetics and Molecular Biology
Genetics and Molecular Biology, Vol 44, Iss 4 (2021)

مصطلحات موضوعية: Exome sequencing, Biology, QH426-470, targeted gene panels, Bioinformatics, NGS panel, DNA sequencing, Gene panel, diagnostic yield, Cohort, Human and Medical Genetics, Clinical genetic, Genetics, Next-generation sequencing, Medical diagnosis, Genetic diagnosis, Molecular Biology, Gene

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2435b78582d7184027172630d0266240
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572021000600102&lng=en&tlng=en

المؤلفون: Fabrizia Stregapede, Lorena Travaglini, Adriana P. Rebelo, Vivian Pedigone Cintra, Emanuele Bellacchio, Luca Bosco, Paolo Alfieri, Stefano Pro, Stephan Zuchner, Enrico Bertini, Francesco Nicita

الاتاحة: http://dx.doi.org/10.1111/cge.13668/v4/response1