Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Marcela Amaral Avelino Jacobina"'
Autor:
Rafael Maffei Loureiro, Marcela Amaral Avelino Jacobina, Vânia D'Almeida, Carla Graziadio, Luiza do Amaral Virmond, José Luiz Pedroso, Michele Migliavacca, Nara Sobreira, Ana Beatriz Alvarez Perez, Eduardo Perrone, Claudia Berlim de Mello, Israel Gomy, Elaine Lustosa Mendes, Stênio Burlin
Publikováno v:
American Journal of Medical Genetics Part A. 185:1047-1058
We aim to characterize patients with Gomez-López-Hernández syndrome (GLHS) clinically and to investigate them molecularly. A clinical protocol, including a morphological and neuropsychological assessment, was applied to 13 patients with GLHS. Singl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9540b78853bcaa230caf4f7c6f823a5
https://doi.org/10.1002/ajmg.a.62059
https://doi.org/10.1002/ajmg.a.62059
Autor:
Stênio Burlin, Ana Beatriz Alvarez Perez, Marcela Amaral Avelino Jacobina, José Luiz Pedroso, Eduardo Perrone, Vânia D'Almeida, Nara Sobreira, Orlando Graziani Povoas Barsottini, Victor Rebelo Procaci
Publikováno v:
Neurology. 96:e1593-e1594
A 42-year-old woman presented with ataxia and numbness in her face since childhood. Her parents were nonconsanguineous. Examination showed ataxia, alopecia, absent corneal reflex, and hypoesthesia in right trigeminal territory (figure 1). Brain MRI d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd594638294153a4b56d539be3294919
https://doi.org/10.1212/wnl.0000000000011158
https://doi.org/10.1212/wnl.0000000000011158
Autor:
Perrone, Eduardo, Burlin, Stênio, D'Almeida, Vânia, Alvarez Perez, Ana Beatriz, de Macena Sobreira, Nara Lygia, Rebelo Procaci, Victor, Avelino Jacobina, Marcela Amaral, Barsottini, Orlando G., Luiz Pedroso, José, Lygia de Macena Sobreira, Nara, Procaci, Victor Rebelo, Pedroso, José Luiz
Publikováno v:
Neurology; 3/16/2021, Vol. 96 Issue 11, pe1593-e1594, 2p
Autor:
Perrone, Eduardo, Alvarez Perez, Ana Beatriz, D'Almeida, Vânia, de Mello, Claudia Berlim, Avelino Jacobina, Marcela Amaral, Loureiro, Rafael Maffei, Burlin, Stênio, Migliavacca, Michele, Amaral Virmond, Luiza do, Graziadio, Carla, Pedroso, José Luiz, Mendes, Elaine Lustosa, Gomy, Israel, de Macena Sobreira, Nara Lygia
Publikováno v:
American Journal of Medical Genetics. Part A; Apr2021, Vol. 185 Issue 4, p1047-1058, 12p