Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Caio R. Quaio"'
Autor:
Marilia M. Montenegro, Caio R. Quaio, Patricia Palmeira, Yanca Gasparini, Andreia Rangel‐Santos, Julian Damasceno, Estela M. Novak, Thamires M. Gimenez, Guilherme L. Yamamoto, Rachel S. Ronjo, Gil M. Novo‐Filho, Samar N. Chehimi, Evelin A. Zanardo, Alexandre T. Dias, Amom M. Nascimento, Thais V. M. M. Costa, Alberto J. da S. Duarte, Luiz L. Coutinho, Chong A. Kim, Leslie D. Kulikowski
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Abstract Background Bloom syndrome (BS) is a rare autosomal recessive chromosome instability disorder. The main clinical manifestations are growth deficiency, telangiectasic facial erythema, immunodeficiency, and increased risk to develop neoplasias
Externí odkaz:
https://doaj.org/article/35c3a715a56746a0b7510a3254638fb4
Autor:
Orlando Graziani Povoas Barsottini, Thiago Yoshinaga Tonholo Silva, José Luiz Pedroso, Caio R Quaio, Dineke Verbeek, Augusto Bragança Reis Rosa
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
Neurology. Genetics, 7(3):e581, 1-5. LIPPINCOTT WILLIAMS & WILKINS
article-version (Version of Record) 3
Neurology. Genetics, 7(3):e581, 1-5. LIPPINCOTT WILLIAMS & WILKINS
Spinocerebellar ataxias (SCAs) are a large group of genetically and phenotypically heterogeneous autosomal dominant, neurodegenerative disorders manifesting with progressive cerebellar ataxia usually with adult-onset.1 Currently, 48 subtypes of SCAs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9086c8c18c1dd9920b075c3ba09066ff
https://pubmed.ncbi.nlm.nih.gov/33884300
https://pubmed.ncbi.nlm.nih.gov/33884300