المؤلفون: Caio Robledo D.’Angioli Costa Quaio, Jose Ricardo Magliocco Ceroni, Murilo Castro Cervato, Helena Strelow Thurow, Caroline Monaco Moreira, Ana Carolina Gomes Trindade, Cintia Reys Furuzawa, Rafaela Rogerio Floriano de Souza, Sandro Felix Perazzio, Aurelio Pimenta Dutra, Christine Hsiaoyun Chung, Chong Ae Kim

المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-9 (2022)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/51ea75e117a14da691f1eb3ce1e22895

المؤلفون: Caio Robledo D’Angioli Costa Quaio, Caroline Monaco Moreira, Christine Hsiaoyun Chung, Sandro Felix Perazzio, Aurelio Pimenta Dutra, Chong Ae Kim

المصدر: São Paulo Medical Journal (2022)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802022005023215&tlng=en; https://doaj.org/toc/1806-9460

URL الوصول: https://doaj.org/article/ec961cc3398246d2a664bb5d537bb6c4

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: Daniele Paixão, Thalitta Hetamaro Ayala 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

المصدر: Frontiers in Oncology, Vol 14 (2024)

مصطلحات موضوعية: long-range PCR, PMS2 gene, PMS2CL pseudogene, Lynch syndrome, next-generation sequencing, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

Relation: https://www.frontiersin.org/articles/10.3389/fonc.2024.1390221/full; https://doaj.org/toc/2234-943X; https://doaj.org/article/cced43562a134df6806e6458d72b8a5e

الاتاحة: https://doi.org/10.3389/fonc.2024.1390221
https://doaj.org/article/cced43562a134df6806e6458d72b8a5e

المؤلفون: Daniele Paixão, Thalitta Hetamaro Ayala Lima, Larissa Souza Mario Bueno, 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, Wagner Antônio da Rosa Baratela, Caroline Mônaco Moreira

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100094- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423000948; https://doaj.org/toc/2949-7744; https://doaj.org/article/31286d16752746f3b95064b8903e4704

الاتاحة: https://doi.org/10.1016/j.gimo.2023.100094
https://doaj.org/article/31286d16752746f3b95064b8903e4704

المؤلفون: Caio Robledo Quaio, Caroline Monaco Moreira, Christine Hsiaoyun Chung, Sandro Felix Perazzio, Aurelio Pimenta Dutra, Chong Ae Kim

المصدر: Molecular Biology Reports. 49:3911-3918

مصطلحات موضوعية: Cohort Studies, Heterozygote, Metabolic Diseases, Exome Sequencing, Infant, Newborn, Genetics, Humans, General Medicine, Molecular Biology, Brazil

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af1799450efe3d01b6ac6d3523756c64
https://doi.org/10.1007/s11033-022-07241-3

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: Ana Lígia Buzolin, Caroline Mônaco Moreira, Patricia Rossi Sacramento, Andre Yuji Oku, Alexandre Ricardo dos Santos Fornari, David Santos Marco Antonio, Caio Robledo D Angioli Costa Quaio, Wagner Rosa Baratela, Miguel Mitne-Neto

المصدر: Human Genomics, Vol 11, Iss 1, Pp 1-9 (2017)

مصطلحات موضوعية: Cancer, Breast, Ovarian, Ion Torrent, BRCA, Medicine, Genetics, QH426-470

Relation: http://link.springer.com/article/10.1186/s40246-017-0110-x; https://doaj.org/toc/1479-7364; https://doaj.org/article/d5dfb10425c949e9979cec408894b6bf

الاتاحة: https://doi.org/10.1186/s40246-017-0110-x
https://doaj.org/article/d5dfb10425c949e9979cec408894b6bf

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: Caio Robledo D.’Angioli Costa Quaio, Jose Ricardo Magliocco Ceroni, Murilo Castro Cervato, Helena Strelow Thurow, Caroline Monaco Moreira, Ana Carolina Gomes Trindade, Cintia Reys Furuzawa, Rafaela Rogerio Floriano de Souza, Sandro Felix Perazzio, Aurelio Pimenta Dutra, Christine Hsiaoyun Chung, Chong Ae Kim

مصطلحات موضوعية: Parents, Rare Diseases, Multidisciplinary, Mutation, Exome Sequencing, Humans, Brazil, Pedigree

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c7ecaa21a6ee500b6bc8c5ab551ad4c

المؤلفون: Rodrigo Fernandes Ramalho, Michele Groenner Penna, Wagner A.R. Baratela, Shirley Dezan Matalhana, Cintia Reys Furuzawa, Ana Lígia Buzolin, Gil M. Novo-Filho, Maria de Lourdes Lopes Ferrari Chauffaille, Aurelio Pimenta Dutra, Gustavo Marquezani Spolador, Vinícius Ceola Pereira, Aline Dos Santos Borgo Perazzio, Chong Ae Kim, Otavio Jose Eulalio Pereira, Ana Lúcia Catelani, Alexandre Ricardo dos Santos Fornari, Monize Nakamoto Provisor Santos, Javier Miguelez, Vanessa Galdeno Freitas, Vanessa Dionisio Cantagalli, Ana Carolina Gomes Trindade, Patricia Rossi Sacramento-Bobotis, Daniele Paixão, Caroline Olivati, Gustavo Arantes Rosa Maciel, Caio Robledo D'Angioli Costa Quaio, Mário Henrique Burlacchini de Carvalho, Elisa Napolitano Ferreira, Fernanda Verzini, Rafael Alves da Silva, Vanessa Yurie Nozaki de Arruda, David Santos Marco Antonio, Alexandre Wagner Silva de Souza, Naiade Romano, Viviane Z. Rocha, Caroline Monaco Moreira, Rafaela Rogerio Floriano de Sousa, Miguel Mitne-Neto, Matheus Carvalho Bürger, Sandro Félix Perazzio, Luis Eduardo Coelho Andrade, Maria Carolina Pintao, Andre Yuji Oku

المصدر: American journal of medical genetics. Part C, Seminars in medical geneticsREFERENCES. 184(4)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, medicine.medical_treatment, Consanguinity, 030105 genetics & heredity, Targeted therapy, Cohort Studies, 03 medical and health sciences, Liver disease, Rare Diseases, Pregnancy, Internal medicine, Exome Sequencing, Genetics, Medicine, Humans, Exome, Clinical care, Child, Genetics (clinical), Exome sequencing, business.industry, medicine.disease, 030104 developmental biology, Cohort, Life expectancy, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac1f1b47f0c825ea9c12a5db9076f3b2
https://pubmed.ncbi.nlm.nih.gov/33258288

المؤلفون: Caio Robledo D' Angioli Costa Quaio, Caroline Monaco Moreira, Moreira, Caroline Monaco, Chung, Christine Hsiaoyun, Perazzio, Sandro Felix, Dutra, Aurélio Pimenta, Kim, Chong Ae

الاتاحة: https://dx.doi.org/10.13140/rg.2.2.11340.95364
http://rgdoi.net/10.13140/RG.2.2.11340.95364

المؤلفون: Gil Monteiro Novo Filho, Caroline Monaco Moreira, Caio Robledo D'Angioli Costa Quaio, Chong Ae Kim, Aurelio Pimenta Dutra, Rodrigo Fernandes Ramalho, Rafaela Rogerio Floriano de Sousa, Miguel Mitne-Neto, Patricia Rossi Sacramento-Bobo, Sandro Félix Perazzio, Rafael Alves da Silva, Michele Groenner Penna, Wagner A.R. Baratela

المصدر: Molecular Genetics and Metabolism. 132:S73

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Cohort, Genetics, medicine, business, Molecular Biology, Biochemistry, Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8f2fc7beec05facce9ff7d6b96a164f0
https://doi.org/10.1016/s1096-7192(21)00190-6

المؤلفون: Miguel Mitne-Neto, Caroline Monaco Moreira, Ana Maria Fraga

المصدر: Journal of Clinical Oncology. 35:e18511-e18511

مصطلحات موضوعية: Cancer Research, Haematopoiesis, medicine.anatomical_structure, Oncology, business.industry, CEBPA, Cancer research, Medicine, Myeloid leukemia, Bone marrow, business, medicine.disease, Infiltration (medical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7d24566e388bf719ecdaf32a433ae32f
https://doi.org/10.1200/jco.2017.35.15_suppl.e18511