Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Cruz, Xavier De La"'
Autor:
Galano-Frutos, Juan J., García-Cebollada, Helena, López, Alfonso, Rosell, Mireia, Cruz, Xavier de la, Fernández-Recio, Juan, Sancho, Javier
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
PirePred is a genetic interpretation tool used for a variety of medical conditions investigated in newborn screening programs. The PirePred server retrieves, analyzes, and displays in real time genetic and structural data on 58 genes/proteins associa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::01311d5e8fd817c93e79305ee320dfd6
http://hdl.handle.net/10261/276498
http://hdl.handle.net/10261/276498
Autor:
Özkan, Selen, Padilla, Natàlia, Moles-Fernández, Alejandro, Diez, Orland, Gutiérrez-Enríquez, Sara, Cruz, Xavier de la
Publikováno v:
In Clinical DNA Variant Interpretation 2021:89-119
Publikováno v:
In Journal of Molecular Biology 2007 365(1):249-256
Autor:
Brasil, Sandra, Leal, Fátima, Vega, Ana, Navarrete, Rosa, Ecay, María, Desviat, Lourdes, Riera, Casandra, Natàlia Padilla, Cruz, Xavier De La, Couce, Mari, Martin-Hernández, Elena, Morais, Ana, Pedrón, Consuelo, Peña-Quintana, Luis, Rigoldi, Miriam, Specola, Norma, Almeida, Isabel De, Vives, Inmaculada, Yahyaoui, Raquel, Rodríguez-Pombo, Pilar, Ugarte, Magdalena, Pérez-Cerda, Celia, Merinero, Begoña, Pérez, Belén
Horizontal and vertical coverages of cobalamin and related genes. (DOCX 24 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8d0d21fc2924b9f4882f8e73ea1fc5a4
Autor:
Brasil, Sandra, Leal, Fátima, Vega, Ana, Navarrete, Rosa, Ecay, María, Desviat, Lourdes, Riera, Casandra, Natàlia Padilla, Cruz, Xavier De La, Couce, Mari, Martin-Hernández, Elena, Morais, Ana, Pedrón, Consuelo, Peña-Quintana, Luis, Rigoldi, Miriam, Specola, Norma, Almeida, Isabel De, Vives, Inmaculada, Yahyaoui, Raquel, Rodríguez-Pombo, Pilar, Ugarte, Magdalena, Pérez-Cerda, Celia, Merinero, Begoña, Pérez, Belén
Functional prediction of new splicing changes identified in cobalamin gene defects. (DOCX 20 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3ea9ab858875c31f6b415ec27df11bce
Autor:
Brasil, Sandra, Leal, Fátima, Vega, Ana, Navarrete, Rosa, Ecay, María, Desviat, Lourdes, Riera, Casandra, Natàlia Padilla, Cruz, Xavier De La, Couce, Mari, Martin-Hernández, Elena, Morais, Ana, Pedrón, Consuelo, Peña-Quintana, Luis, Rigoldi, Miriam, Specola, Norma, Almeida, Isabel De, Vives, Inmaculada, Yahyaoui, Raquel, Rodríguez-Pombo, Pilar, Ugarte, Magdalena, Pérez-Cerda, Celia, Merinero, Begoña, Pérez, Belén
New and VUS missense mutations in cobalamin genes identified in the discovery cohort. (DOCX 24 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01ccedbe355bbc2ad430a7ad92b48877
Publikováno v:
UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)
Universitat Politècnica de Catalunya (UPC)
Assessing the impact of amino acid mutations in human health is an important challenge in biomedical research. As sequencing technologies are more available, and more individual genomes become accessible, the number of identified variants has dramati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ff4ee8671ae863cafac99416fe4cee31
http://hdl.handle.net/2117/107856
http://hdl.handle.net/2117/107856
Autor:
Alves, Ana Catarina, Austin-Tse, Christina Anne, Bourbon, Mafalda, Carvalho, Marcelo A., Ceyhan-Birsoy, Ozge, Charames, George S., Chora, Joana Rita, Colombo, Mara, Cruz, Xavier de la, den Dunnen, Johan T., de Wind, Niels, Diez, Orland, Elias, Anna B.R., Evans, D Gareth, Feliubadaló, Lidia, Fernandes, Vanessa C., Fokkema, Ivo F.A.C., Fortuno, Cristina, Garrett, Alice, Gasparini, Paolo, Girotto, Giorgia, González-Neira, Anna, Gripp, Karen W., Gutiérrez-Enríquez, Sara, Harrison, Steven M., Hoya, Miguel de la, Ingles, Jodie, Johnson, Renee, Lerner-Ellis, Jordan, Levy, Harvey, Lázaro, Conxi, Mason-Suares, Heather, Medeiros, Ana Margarida, Mester, Jessica L., Moles-Fernández, Alejandro, Monteiro, Alvaro N.A., Morgan, Anna, Nepomuceno, Thales C., Núñez-Torres, Rocío, Özkan, Selen, Padilla, Natàlia, Parsons, Michael T., Pesaran, Tina F., Pineda, Marta, Radice, Paolo, Rajabi, Farrah, Richardson, Ebony, Sabatini, Peter, Sacharow, Stephanie, Spurdle, Amanda, Thompson, Bryony A., Tudini, Emma, Turnbull, Clare, Vincent, Lisa M., Walsh, Michael F., Watkins, Nicholas
Publikováno v:
In Clinical DNA Variant Interpretation 2021:xvii-xxi
Publikováno v:
UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)
Universitat Politècnica de Catalunya (UPC)
Amino acid substitutions in proteins can result in an altered phenotype which might lead to a disease. PMut2 is a method that can predict whether a mutation has a pathological effect on the protein function. It uses current machine learning algorithm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d72df28b4d63daf467d5935866bb61ac
https://hdl.handle.net/2117/91107
https://hdl.handle.net/2117/91107