Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Armanda Passas"'
Publikováno v:
Neuropediatrics. 53:265-273
Copy number variants (CNVs) are a major contribution to genome variability, and the presence of CNVs on chromosome 1 is a known cause of morbidity. The main objective of this study was to contribute to chromosome 1 disease map, through the analysis o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55ae65e38de299685795fa39edb4c83c
https://doi.org/10.1055/s-0042-1754162
https://doi.org/10.1055/s-0042-1754162
Autor:
Helena Santos, Isabel Ayres-Pereira, Sara Pinto, Aana Lopes, Andreia I Ribeiro, Carla Valongo, Armanda Passas, Ana Vieira
Publikováno v:
Revista de Neurología. 68:179
Title Deficiencia de glicerolcinasa: una causa metabolica de retraso global del desarrollo.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5cab2b0500887e12111a92070b405fb3
https://doi.org/10.33588/rn.6804.2018333
https://doi.org/10.33588/rn.6804.2018333
Autor:
Susana Fernandes, Rita Santos-Silva, Jose Mendes-Ribeiro, Miguel Leão, Saskia Biskup, Rita Figueiredo, Carla Rocha, Armanda Passas
Publikováno v:
Neuropediatrics. 46(2)
Loss of function of GPR56 causes a specific brain malformation called the bilateral frontoparietal polymicrogyria (BFPP), which has typical clinical and neuroradiological findings. So far, 35 families and 26 independent mutations have been described.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9648826596ec2b6490a94a10754cc873
https://pubmed.ncbi.nlm.nih.gov/25642806
https://pubmed.ncbi.nlm.nih.gov/25642806