Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Mariana Adrião"'
Autor:
Mariana Adrião, Ana Maia, Augusto Magalhães, Carla Moura, Nuno Alegrete, David Casimiro de Andrade, Cíntia Correia, Joana Rebelo, Marta Tavares, Edite Gonçalves, Micaela Guardiano
Publikováno v:
Gazeta Médica, Vol 6, Iss 2 (2019)
INTRODUÇÃO: A trissomia 21 (T21) é a cromossomopatia mais frequente, independentemente do género, etnia ou classe social. Os recém-nascidos apresentam alterações fenotípicas e eventualmente malformações congénitas. O objetivo foi criar um
Externí odkaz:
https://doaj.org/article/960ecf6361f349ce919443d852c86148
Autor:
Sofia Ferreira, Manuel Fontoura, Rita Santos Silva, Maria Luisa García, Sofia Dória, Mariana Adrião, Cíntia Castro-Correia, Carla Costa
Publikováno v:
Clinical Pediatric Endocrinology
An individual’s sexual phenotype is usually determined by the presence or absence of the Y chromosome in the embryo’s karyotype, however, due to abnormal X/Y terminal exchange through male meiosis, a few individuals develop male genitalia in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39038f8bb7593a01d65f9e83c727214f
http://europepmc.org/articles/PMC6958519
http://europepmc.org/articles/PMC6958519
Publikováno v:
Portuguese Journal of Pediatrics, Vol 51, Iss 1 (2020)
High-resolution genetic tests, such as microarray-based comparative genomic hybridization, are helping clinicians in the diagnostic “odyssey” of neurodevelopmental disorders. Nevertheless, it has been leading to the description of a new kind of s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68d49eda962891e11cf16d267483c601
Autor:
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
Publikováno v:
Gazeta Médica.
INTRODUCTION: Trisomy 21 (T21) is the most common chromosomopathy worldwide, regardless of gender, ethnic group and social class. The newborns typically present with phenotypic characteristics and might have congenital malformations. Our objectives w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::56ab48aca5e1b634eef2c61939d0870e
https://doi.org/10.29315/gm.v6i2.209
https://doi.org/10.29315/gm.v6i2.209
Autor:
Isabel Alonso, Mariana Adrião, Elisa Leão Teles, Miguel Leão, Esmeralda Rodrigues, Margarida Ayres Basto, Laura Vilarinho, Mafalda Sampaio, Sandra Pereira
Publikováno v:
JIMD Reports ISBN: 9783662583647
Research report Free PMC Article: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6226392/ Introduction: Combined oxidative phosphorylation deficiency 20 (COXPD20) is a mitochondrial respiratory chain complex (RC) disorder, caused by disease-causing var
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d17b68babea283ca61717083d255981
https://hdl.handle.net/10400.18/6265
https://hdl.handle.net/10400.18/6265