Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Elizabeth Couchon"'
Publikováno v:
Molecular Genetics and Metabolism. 123:S35
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a204464ed5bc17b0168ca9d934c597a1
https://doi.org/10.1016/j.ymgme.2017.12.071
https://doi.org/10.1016/j.ymgme.2017.12.071
Autor:
Cozma, Claudia a, Couchon, Elizabeth Couchon b, Giese, Anne-Katrin c, Iurascu, Marius a, Rolfs, Arndt c, a
Publikováno v:
In Molecular Genetics and Metabolism February 2018 123(2):S35-S35
Autor:
Marie Discenza, Vivien Narcisa, Erica Vaccari, Elizabeth Couchon, Beth Rosen-Sheidley, Antonio Y. Hardan
Publikováno v:
Clinical pediatrics. 52(2)
To better understand parental opinions regarding the diagnostic process and use of genetic testing to assess risk for autism spectrum disorders (ASDs) in the younger siblings of affected children in the Unites States, we conducted a survey of parents
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61786c021617ac821538bd072b2e024a
https://pubmed.ncbi.nlm.nih.gov/23193169
https://pubmed.ncbi.nlm.nih.gov/23193169
Autor:
Tatsuo Yamada, Matthew J. Farrer, Yasuhiko Baba, Yoshinari Uehara, Elizabeth Couchon, Sat Dev Batish, Kevin B. Boylan, Zbigniew K. Wszolek, Ryan J. Uitti
Publikováno v:
Parkinsonismrelated disorders. 13(3)
Mutations of the aprataxin (APTX) gene cause early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH), also called ataxia with oculomotor apraxia type 1. Recent studies showed clinical heterogeneity in patients with EAOH. We describe 2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b93f6c8c9f4b7e80ecc54130fc52f26
https://pubmed.ncbi.nlm.nih.gov/17049295
https://pubmed.ncbi.nlm.nih.gov/17049295