Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Samuel Martin-Rodriguez"'
Autor:
Raquel Salazar Saez, Miriam Zorrilla, Rosa Sánchez, Ana Cebollero, Isabel Manrique, Alfonso Martín, Leticia de Ávila, Alejandra Lacalle-Emborujo, Samuel Martin-Rodriguez, Iván Bernardo-González, Martina Alonso
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 22, Iss 1, Pp 1-10 (2024)
Abstract Background To study BRCA1/2 gene variants in La Rioja in the northcentral area of Spain. Methods We performed a molecular analysis of BRCA1 and BRCA2 in 642 individuals from 427 different families from June 2008 to December 2019. Results We
Externí odkaz:
https://doaj.org/article/35c28ac6359d4552a20469a02b23ac49
Autor:
Ivan Bernardo-Gonzalez, Maria-Alicia Calvo-Ferrer, Samuel Martin-Rodriguez, Laura Samaniego-Jimenez, Maria-Pilar Sanz-Izquierdo
Publikováno v:
HLAREFERENCES. 98(6)
HLA-C*07:943 differs from C*07:01:01:01 at positions 648 (c.648C > T) and 652 (c.652C > G) in exon 4.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::378d7c6e1fd1a3fea1bab9d0b4795c9a
https://pubmed.ncbi.nlm.nih.gov/34329542
https://pubmed.ncbi.nlm.nih.gov/34329542
Autor:
Ivan Bernardo-Gonzalez, Nerea Ortega-Unanue, Samuel Martin-Rodriguez, Ángel-Javier Blasco-Sarramián, Maria-Alicia Calvo-Ferrer
Publikováno v:
Annals of allergy, asthmaimmunology : official publication of the American College of Allergy, Asthma,Immunology. 123(6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0588b3de077cca0ba15e38e19bdcd200
https://pubmed.ncbi.nlm.nih.gov/31568857
https://pubmed.ncbi.nlm.nih.gov/31568857
Autor:
Ivan Bernardo-Gonzalez, Laura Samaniego-Jimenez, Alicia Calvo-Ferrer, Maria Pilar Sanz-Izquierdo, Samuel Martin-Rodriguez, Nerea Ortega-Unanue
Publikováno v:
Annals of human genetics. 83(4)
Ataxia-telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder characterized by progressive cerebellar ataxia, ocular apraxia, immunodeficiency, telangiectasia, elevated serum α-fetoprotein concentration, radiosensitivity and c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a481e265c827cc056bee0d944368742a
https://pubmed.ncbi.nlm.nih.gov/30888062
https://pubmed.ncbi.nlm.nih.gov/30888062