Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Roser Urreitzi"'
Autor:
Francesc Palau, Flavio Faltera, Shivarajan M. Amudhavalli, Katherine B. Burke, Nicolas Derive, Charlotte von der Lippe, Andrew E. Fry, Kristian Tveten, Médéric Jeanne, Deborah Osio, Øyvind L. Busk, Roser Urreitzi, Julia Baptista, Ana S.A. Cohen, Wenche Moe Thorstensen, Trine Prescott, Frédérique Bonnet-Brilhault, Jonathan Levy, Séverine Drunat, Derek Lim, Jennifer Evans, Janet Hoenicka, Irene Bruno, Øystein L. Holla, Francis H. Sansbury, Carol Macmillan, Marte G. Haug, Stephen Jolles, Salvador Climent, Dihong Zhou, Kendra Engleman
Publikováno v:
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
r-FISABIO. Repositorio Institucional de Producción Científica
instname
r-FISABIO. Repositorio Institucional de Producción Científica
instname
By clinical whole exome sequencing, we identified 12 individuals with ages 3 to 37 years, including three individuals from the same family, with a consistent phenotype of intellectual disability (ID), macrocephaly, and overgrowth of adenoid tissue. A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2690edd2326af1407fc1e87bfc7676a
https://fundanet.fisabio.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=12015
https://fundanet.fisabio.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=12015
Autor:
Mercè Pineda, Aida Ormazabal, Roser Urreitzi, Julio Montoya, Angels García-Cazorla, Rafael Artuch, Cristina Sierra, Jaume Campistol, Belén Pérez-Dueñas, Mercedes Serrano
Publikováno v:
Clinical biochemistry. 44(8-9)
Objective To evaluate the automated determination of total cerebrospinal fluid (CSF) folates for the diagnosis of cerebral folate deficiency. Method CSF and serum samples were analyzed in 60 children with different neurological disorders. Result In a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29b0fd77afc814b9faf762de23ae4286
https://pubmed.ncbi.nlm.nih.gov/21396357
https://pubmed.ncbi.nlm.nih.gov/21396357
