المؤلفون: Samantha Vernaschi Kelmann, Bruno de Oliveira Stephan, Silvia Maria de Macedo Barbosa, Rita Tiziana Verardo Polastrini, Zilda Najjar Prado de Oliveira, Maria Cecília Rivitti-Machado, Gustavo Marquezani Spolador, Rachel Sayuri Honjo, Ken Saida, Naomichi Matsumoto, Chong Ae Kim

المصدر: Anais Brasileiros de Dermatologia, Vol 99, Iss 3, Pp 350-356 (2024)

مصطلحات موضوعية: Epidermolysis bullosa, Exome, Genetics, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962024000300350&tlng=en; https://doaj.org/toc/0365-0596

URL الوصول: https://doaj.org/article/0904c9c811b6467b826eb2169916ce77

المؤلفون: Gustavo Marquezani Spolador, Clarissa Bueno, Rita Tiziana Verardo Polastrini, Ivete Zoboli, Ana Cristina Henrique, Elaine Freitas, Andréa Gislene doNascimento, Camila Pugliese, Fernando Kok, Silvia Maria de Macedo Barbosa

المصدر: JIMD Reports, Vol 65, Iss 3, Pp 182-187 (2024)

مصطلحات موضوعية: inborn errors of metabolism, metabolic diseases, metabolism, palliative care, pediatric palliative care, pediatrics, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/86d3a597d8da4846aa490bd2d48b6642

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: Bruno de Oliveira Stephan, Silvia Maria Macedo Barbosa, Rita Tiziana Verardo Polastrin, Zilda Najjar Prado Oliveira, Maria Cecília Rivitti, Gustavo Marquezani Spolador, Rachel Sayuri Honjo, Ken Saida, Naomichi Matsumoto, Chong Ae Kim, Debora Romeo Bertola, Samantha Vernaschi Kelmann

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e34e2a4f3a4cdfb2f59ba8735a4a8469
https://doi.org/10.21203/rs.3.rs-2675774/v1

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: Simone Finzi, Caio Robledo D'Angioli Costa Quaio, Ana Carolina de Paula, Ana Maria Martins, Débora Romeo Bertola, Gabriela Nunes Leal, Rachel Sayuri Honjo, Carla Gentile Matas, Artur Tenorio, Chong Ae Kim, Gustavo Marquezani Spolador, Flavia Teixeira Chimelo, Bruno de Oliveira Stephan, Marco A. Curiati

مصطلحات موضوعية: medicine.medical_specialty, Text mining, business.industry, Internal medicine, Medicine, Mild form, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3f89b50408d7257607e2d52875afc479
https://doi.org/10.21203/rs.3.rs-540976/v1

المؤلفون: Rachel Sayuri Honjo, José Ricardo Magliocco Ceroni, Chong Ae Kim, Diana Salazar Bermeo, Gustavo Marquezani Spolador, Débora Romeo Bertola, Luiz Antonio Nunes de Oliveira

المصدر: Skeletal Radiology. 48:1201-1207

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Genetic counseling, Scoliosis, Short stature, 030218 nuclear medicine & medical imaging, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Mucolipidoses, medicine, Humans, Radiology, Nuclear Medicine and imaging, Child, Retrospective Studies, 030203 arthritis & rheumatology, Mucolipidosis, business.industry, Infant, Retrospective cohort study, medicine.disease, Hypoplasia, Radiography, Child, Preschool, Orthopedic surgery, Female, Differential diagnosis, medicine.symptom, business, Brazil

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf3834750bd4da956c4e00bcc3093c86
https://doi.org/10.1007/s00256-019-3159-x

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: Bruno de Oliveira Stephan, Caio Robledo Quaio, Gustavo Marquezani Spolador, Ana Carolina de Paula, Marco Antônio Curiati, Ana Maria Martins, Gabriela Nunes Leal, Artur Tenorio, Simone Finzi, Flavia Teixeira Chimelo, Carla Gentile Matas, Rachel Sayuri Honjo, Debora Romeo Bertola, Chong Ae Kim

المصدر: Clinics. 77:100082

مصطلحات موضوعية: Male, Humans, Enzyme Replacement Therapy, General Medicine, Brazil, Follow-Up Studies, Mucopolysaccharidosis II

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::082dd6424a21bb639e17c540eaca65b9
https://doi.org/10.1016/j.clinsp.2022.100082