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1دورية أكاديمية
المؤلفون: Mariana Adrião, Ana Maia, Augusto Magalhães, Carla Moura, Nuno Alegrete, David Casimiro de Andrade, Cíntia Correia, Joana Rebelo, Marta Tavares, Edite Gonçalves, Micaela Guardiano
المصدر: Gazeta Médica, Vol 6, Iss 2 (2019)
مصطلحات موضوعية: Estudos Interdisciplinares, Síndrome de Down, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
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المؤلفون: Sofia Ferreira, Manuel Fontoura, Rita Santos Silva, Maria Luisa García, Sofia Dória, Mariana Adrião, Cíntia Castro-Correia, Carla Costa
المصدر: Clinical Pediatric Endocrinology
مصطلحات موضوعية: medicine.medical_specialty, gynecomastia, Endocrinology, Diabetes and Metabolism, Genetic counseling, 030209 endocrinology & metabolism, Case Report, XX male disorder of sexual development, Y chromosome, hypergonadotropic hypogonadism, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Hypergonadotropic hypogonadism, medicine, Neoplastic transformation, 030212 general & internal medicine, X chromosome, Gynecology, business.industry, Karyotype, medicine.disease, Testis determining factor, Gynecomastia, Pediatrics, Perinatology and Child Health, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39038f8bb7593a01d65f9e83c727214f
http://europepmc.org/articles/PMC6958519 -
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المؤلفون: Mariana Adrião, Micaela Guardiano, Daniel Gonçalves
المصدر: Portuguese Journal of Pediatrics, Vol 51, Iss 1 (2020)
مصطلحات موضوعية: lcsh:R5-920, lcsh:RJ1-570, lcsh:Pediatrics, lcsh:Medicine (General)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68d49eda962891e11cf16d267483c601
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المؤلفون: Micaela Guardiano, Joana Rebelo, Cíntia Castro Correia, Augusto Magalhães, David Casimiro de Andrade, Mariana Adrião, Ana Maia, Marta Tavares, Carla Pinto Moura, Edite Gonçalves, Nuno Alegrete
المصدر: Gazeta Médica.
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Ethnic group, Congenital malformations, medicine.disease, Social class, Age groups, Family medicine, Intervention (counseling), Health care, medicine, Life expectancy, Trisomy, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::56ab48aca5e1b634eef2c61939d0870e
https://doi.org/10.29315/gm.v6i2.209 -
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المؤلفون: Isabel Alonso, Mariana Adrião, Elisa Leão Teles, Miguel Leão, Esmeralda Rodrigues, Margarida Ayres Basto, Laura Vilarinho, Mafalda Sampaio, Sandra Pereira
المصدر: JIMD Reports ISBN: 9783662583647
مصطلحات موضوعية: 0301 basic medicine, Genetics, Mitochondrial Encephalopathy, RNA, Mitochondrial diseases, Oxidative phosphorylation, VARS2 gene, Biology, Article, Doenças Genéticas, Transfer, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Mitochondrial respiratory chain, Exome Sequencing, Mitochondrial encephalopathy, Missense mutation, Amino Acyl, Gene, Severe Epileptic Encephalopathy, 030217 neurology & neurosurgery, Exome sequencing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d17b68babea283ca61717083d255981
https://hdl.handle.net/10400.18/6265