Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases

Autor:	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
Rok vydání:	2021
Předmět:	Pediatrics medicine.medical_specialty Endocrinology business.industry Endocrinology Diabetes and Metabolism Cohort Genetics medicine business Molecular Biology Biochemistry Exome sequencing
Zdroj:	Molecular Genetics and Metabolism. 132:S73
ISSN:	1096-7192
DOI:	10.1016/s1096-7192(21)00190-6
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::8f2fc7beec05facce9ff7d6b96a164f0 https://doi.org/10.1016/s1096-7192(21)00190-6 Zobrazit plný text záznamu Full Text from ScienceDirect