Výsledky vyhledávání - "Albert Plaja"

Akademický článek

Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years’ experience in Catalonia (Spain)

Autor: Andrea Martin‐Nalda, Anna M. Cueto‐González, Ana Argudo‐Ramírez, Jose L. Marin‐Soria, Monica Martinez‐Gallo, Roger Colobran, Albert Plaja, Neus Castells, Jacques Riviere, Eduardo F. Tizzano, Pere Soler‐Palacin

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)

Abstract Background The current scenario of newborn screening is changing as DNA studies are being included in the programs of several countries. Severe combined immunodeficiency (SCID) disorders can be detected using quantitative PCR assays to measu

Externí odkaz: https://doaj.org/article/5fd90d6790484b2b99c860828ddbffb2

Zobrazit plný text záznamu

Plný text ve formátu HTML

Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency: two years’ experience in Catalonia (Spain)

Autor: Neus Castells, Albert Plaja, Mónica Martínez-Gallo, Andrea Martín-Nalda, Anna M. Cueto-González, Pere Soler-Palacín, Ana Argudo-Ramírez, Eduardo F. Tizzano, Roger Colobran, Jacques G. Rivière, Jose Luis Marín-Soria

Publikováno v: Scientia
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)

Background The current scenario of newborn screening is changing as DNA studies are being included in the programs of several countries. Severe combined immunodeficiency (SCID) disorders can be detected using quantitative PCR assays to measure T‐ce

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1617d413f71bc21eaa0846cc9be14801
https://hdl.handle.net/11351/5218

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání