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1دورية أكاديمية
المؤلفون: Mateus V. de Castro, Keity S. Santos, Juliana S. Apostolico, Edgar R. Fernandes, Rafael R. Almeida, Gabriel Levin, Jhosiene Y. Magawa, João Paulo S. Nunes, Mirian Bruni, Marcio M. Yamamoto, Ariane C. Lima, Monize V. R. Silva, Larissa R. B. Matos, Vivian R. Coria, Erick C. Castelli, Marilia O. Scliar, Andreia Kuramoto, Fernanda R. Bruno, Lucas C. Jacintho, Kelly Nunes, Jaqueline Y. T. Wang, Veronica P. Coelho, Miguel Mitne Neto, Rui M. B. Maciel, Michel S. Naslavsky, Maria Rita Passos-Bueno, Silvia B. Boscardin, Daniela S. Rosa, Jorge Kalil, Mayana Zatz, Edecio Cunha-Neto
المصدر: Open Biology, Vol 12, Iss 2 (2022)
مصطلحات موضوعية: COVID-19, twins, severe acute respiratory distress syndrome coronavirus 2, T cell, recurrence, immunity, Biology (General), QH301-705.5
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2046-2441
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2دورية أكاديمية
المؤلفون: Johnathan Cooper-Knock, Sai Zhang, Kevin P. Kenna, Tobias Moll, John P. Franklin, Samantha Allen, Helia Ghahremani Nezhad, Alfredo Iacoangeli, Nancy Y. Yacovzada, Chen Eitan, Eran Hornstein, Eran Ehilak, Petra Celadova, Daniel Bose, Sali Farhan, Simon Fishilevich, Doron Lancet, Karen E. Morrison, Christopher E. Shaw, Ammar Al-Chalabi, Jan H. Veldink, Janine Kirby, Michael P. Snyder, Pamela J. Shaw, Ian Blair, Naomi Wray, Matthew Kiernan, Miguel Mitne Neto, Adriano Chio, Ruben Cauchi, Wim Robberecht, Philip van Damme, Phillippe Corcia, Phillipe Couratier, Orla Hardiman, Russel McLaughlin, Marc Gotkine, Vivan Drory, Nicola Ticozzi, Vincenzo Silani, Jan Veldink, Leonard van den Berg, Mamede de Carvalho, Jesus Mora Pardina, Monica Povedano, Peter Andersen, Markus Wber, Nazli Başak, Christopher Shaw, Pamela Shaw, Karen Morrison, John Landers, Jonathan Glass
المصدر: Cell Reports, Vol 33, Iss 9, Pp 108456- (2020)
مصطلحات موضوعية: amyotrophic lateral sclerosis, whole-genome sequencing, CAV1, CAV2, non-coding DNA, gene enhancers, Biology (General), QH301-705.5
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Johnathan Cooper-Knock, Henry Robins, Isabell Niedermoser, Matthew Wyles, Paul R. Heath, Adrian Higginbottom, Theresa Walsh, Mbombe Kazoka, Project MinE ALS Sequencing Consortium, Paul G. Ince, Guillaume M. Hautbergue, Christopher J. McDermott, Janine Kirby, Pamela J. Shaw, Ahmad Al Kheifat, Ammar Al-Chalabi, Nazli Basak, Ian Blair, Annelot Dekker, Orla Hardiman, Winston Hide, Alfredo Iacoangeli, Kevin Kenna, John Landers, Russel McLaughlin, Jonathan Mill, Bas Middelkoop, Mattieu Moisse, Jesus Mora Pardina, Karen Morrison, Stephen Newhouse, Sara Pulit, Aleksey Shatunov, Chris Shaw, William Sproviero, Gijs Tazelaar, Philip van Damme, Leonard van den Berg, Rick van der Spek, Kristelvan Eijk, Michael van Es, Wouter van Rheenen, Joke van Vugt, Jan Veldink, Maarten Kooyman, Jonathan Glass, Wim Robberecht, Marc Gotkine, Vivian Drory, Matthew Kiernan, Miguel Mitne Neto, Mayana Ztaz, Philippe Couratier, Philippe Corcia, Vincenzo Silani, Adriano Chio, Mamede de Carvalho, Susana Pinto, Alberto Garcia Redondo, Peter Andersen, Markus Weber, Nicola Ticozzi
المصدر: Frontiers in Molecular Neuroscience, Vol 10 (2017)
مصطلحات موضوعية: amyotrophic lateral sclerosis, RNA binding proteins, oligogenic inheritance, C9ORF72, DNA sequencing, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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4دورية أكاديمية
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
وصف الملف: electronic resource
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5دورية أكاديمية
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)
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Larissa Bueno, Daniele Paixão, Thalitta Lima, Juliana Carnavalli, Andrea Kiss, Caroline Moreira, Miguel Mitne-Neto, Wagner Baratela
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100481- (2023)
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Thalitta Lima, Daniele Paixão, Larissa Bueno, Rafaela Sousa, Juliana Carnavalli, Maria Júlia Bezerra, Flavio Bitencourt, Maria Claudia Luciano, Rosane Sant'ana, Caroline Moreira, Wagner Baratela, Miguel Mitne-Neto
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100548- (2023)
وصف الملف: electronic resource
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8
المؤلفون: Marcela Câmara Machado-Costa, Miguel Mitne-Neto, Luiza Helena Degani Costa, Luciana Moura Alves, Acary Souza Bulle Oliveira, Mayana Zatz, Helga Cristina Almeida Silva
المصدر: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. :1-6
مصطلحات موضوعية: Neurology, Neurology (clinical), General Medicine
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9
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 -
10
المؤلفون: null Mateus V. de Castro, null Keity S. Santos, null Juliana S. Apostolico, null Edgar R. Fernandes, null Rafael R. Almeida, null Gabriel Levin, null Jhosiene Y. Magawa, null João Paulo S. Nunes, null Mirian Bruni, null Marcio M. Yamamoto, null Ariane C. Lima, null Monize V. R. Silva, null Larissa R. B. Matos, null Vivian R. Coria, null Erick C. Castelli, null Marilia O. Scliar, null Andreia Kuramoto, null Fernanda R. Bruno, null Lucas C. Jacintho, null Kelly Nunes, null Jaqueline Y. T. Wang, null Veronica P. Coelho, null Miguel Mitne Neto, null Rui M. B. Maciel, null Michel S. Naslavsky, null Maria Rita Passos-Bueno, null Silvia B. Boscardin, null Daniela S. Rosa, null Jorge Kalil, null Mayana Zatz, null Edecio Cunha-Neto
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::233b604f517afd73a0bca7b2675bb849
https://doi.org/10.1098/rsob.210240/v3/response1