المؤلفون: Ojeda-Pérez, Betsaida, Campos-Sandoval, José A, García-Bonilla, María, Cárdenas-García, Casimiro, Páez-González, Patricia, Jiménez, Antonio J

مصطلحات موضوعية: Biomarkers, Energy dispersive X-ray spectroscopy (EDS), Hereditary hydrocephalus, Lipids, Matrix-assisted laser desorption ionization mass spectrometry imaging (MALDI-MSI), NG2 antigen, Oligodendrocyte progenitor cells, Proteomic, Ultrahigh-performance liquid chromatography-high-resolution mass spectrometry (UHPLC–HRMS), Animals, Brain, Gray Matter, Hydrocephalus, Mice, Transgenic, Neurodegenerative Diseases, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, White Matter

العلاقة: http://hdl.handle.net/10668/18147Test; http://hdl.handle.net/20.500.12105/18396Test; Fluids and barriers of the CNS

الإتاحة: https://doi.org/20.500.12105/18396Test
https://doi.org/10.1186/s12987-021-00263-2Test
http://hdl.handle.net/10668/18147Test
https://hdl.handle.net/20.500.12105/18396Test

المؤلفون: Yahyaoui, Raquel, Blasco-Alonso, Javier, Gonzalo-Marín, Montserrat, Benito, Carmen, Serrano-Nieto, Juliana, González-Gallego, Inmaculada, Ruiz-Sala, Pedro, Pérez, Belén, González-Lamuño, Domingo

مصطلحات موضوعية: Acylcarnitines, Amino acids, Dried blood spot (DBS), Hereditary metabolic disorders, Inborn errors of metabolism, Incidental finding, Newborn screening (NBS), Next generation sequencing (NGS), Amino Acid Metabolism, Inborn Errors, Brain Diseases, Metabolic, Cardiomyopathies, Carnitine, Dried Blood Spot Testing, Female, Glutaryl-CoA Dehydrogenase, Homocystinuria, Humans, Hyperammonemia, Infant, Newborn, Male, Muscular Diseases, Neonatal Screening

العلاقة: http://hdl.handle.net/10668/16188Test; http://hdl.handle.net/20.500.12105/18107Test; Genes

الإتاحة: https://doi.org/20.500.12105/18107Test
https://doi.org/10.3390/genes11091018Test
http://hdl.handle.net/10668/16188Test
https://hdl.handle.net/20.500.12105/18107Test

المؤلفون: Pajares, Bella, Porta, Javier, Porta, Jose María, Sousa, Cristina Fernández-de, Moreno, Ignacio, Porta, Daniel, Durán, Gema, Vega, Tamara, Ortiz, Inmaculada, Muriel, Carolina, Alba, Emilio, Márquez, Antonia

مصطلحات موضوعية: Andalusian population, BRCA1/BRCA2 mutation, Genetic counselling, Hereditary breast and ovarian cancer, Recurrent mutation, Adult, BRCA1 Protein, BRCA2 Protein, DNA Mutational Analysis, Female, Genetic Predisposition to Disease, Germ-Line Mutation, Hereditary Breast and Ovarian Cancer Syndrome, Humans, Middle Aged, Spain

العلاقة: http://hdl.handle.net/10668/12566Test; http://hdl.handle.net/20.500.12105/17605Test; BMC cancer

الإتاحة: https://doi.org/20.500.12105/17605Test
https://doi.org/10.1186/s12885-018-4537-9Test
http://hdl.handle.net/10668/12566Test
https://hdl.handle.net/20.500.12105/17605Test

المؤلفون: Pajares, Bella, Porta, Javier, Porta, Jose María, Sousa, Cristina Fernández-de, Moreno, Ignacio, Porta, Daniel, Durán, Gema, Vega, Tamara, Ortiz, Inmaculada, Muriel, Carolina, Alba, Emilio, Márquez, Antonia

مصطلحات موضوعية: Andalusian population, BRCA1/BRCA2 mutation, Genetic counselling, Hereditary breast and ovarian cancer, Recurrent mutation, Adult, BRCA1 Protein, BRCA2 Protein, DNA Mutational Analysis, Female, Genetic Predisposition to Disease, Germ-Line Mutation, Hereditary Breast and Ovarian Cancer Syndrome, Humans, Middle Aged, Spain

العلاقة: http://hdl.handle.net/10668/12566Test; http://hdl.handle.net/20.500.12105/17752Test; BMC cancer

الإتاحة: https://doi.org/20.500.12105/17752Test
https://doi.org/10.1186/s12885-018-4537-9Test
http://hdl.handle.net/10668/12566Test
https://hdl.handle.net/20.500.12105/17752Test

المؤلفون: Becerra-Muñoz, Víctor Manuel, Gómez-Doblas, Juan José, Porras-Martín, Carlos, Such-Martínez, Miguel, Crespo-Leiro, María Generosa, Barriales-Villa, Roberto, de Teresa-Galván, Eduardo, Jiménez-Navarro, Manuel, Cabrera-Bueno, Fernando

مصطلحات موضوعية: Ascending aortic aneurysm, FBN-1, Genetic testing, Hereditary aortopathy, Marfan syndrome, Type a dissection, Adolescent, Adult, Child, Preschool, Echocardiography, Female, Fibrillin-1, Genetic Association Studies, Genotype, Humans, Male, Mutation, Phenotype, Prospective Studies, Young Adult

العلاقة: http://hdl.handle.net/10668/12035Test; http://hdl.handle.net/20.500.12105/17572Test; Orphanet journal of rare diseases

الإتاحة: https://doi.org/20.500.12105/17572Test
https://doi.org/10.1186/s13023-017-0754-6Test
http://hdl.handle.net/10668/12035Test
https://hdl.handle.net/20.500.12105/17572Test

المؤلفون: Becerra-Muñoz, Víctor Manuel, Gómez-Doblas, Juan José, Porras-Martín, Carlos, Such-Martínez, Miguel, Crespo-Leiro, María Generosa, Barriales-Villa, Roberto, de Teresa-Galván, Eduardo, Jiménez-Navarro, Manuel, Cabrera-Bueno, Fernando

مصطلحات موضوعية: Ascending aortic aneurysm, FBN-1, Genetic testing, Hereditary aortopathy, Marfan syndrome, Type a dissection, Adolescent, Adult, Child, Preschool, Echocardiography, Female, Fibrillin-1, Genetic Association Studies, Genotype, Humans, Male, Mutation, Phenotype, Prospective Studies, Young Adult

العلاقة: http://hdl.handle.net/10668/12035Test; http://hdl.handle.net/20.500.12105/17719Test; Orphanet journal of rare diseases

الإتاحة: https://doi.org/20.500.12105/17719Test
https://doi.org/10.1186/s13023-017-0754-6Test
http://hdl.handle.net/10668/12035Test
https://hdl.handle.net/20.500.12105/17719Test

المؤلفون: Mur, Pilar, De Voer, Richarda M, Olivera-Salguero, Rubén, Rodriguez Perales, Sandra, Pons, Tirso, Setién, Fernando, Aiza, Gemma, Valdés-Mas, Rafael, Bertini, Angelo, Pineda, Marta, Vreede, Lilian, Navarro, Matilde, Iglesias, Silvia, González, Sara, Brunet, Joan, Valencia, Alfonso, Esteller, Manel, Lázaro, Conxi, Kops, Geert J P L, Urioste, Miguel, Puente, Xose S, Capellá, Gabriel, Valle, Laura

المساهمون: Ministerio de Ciencia e Innovación (España), Instituto de Salud Carlos III, Asociación Española Contra el Cáncer, Government of Catalonia (España), Dutch Cancer Society (Holanda)

مصطلحات موضوعية: Colorectal cancer predisposition, Hereditary colorectal cancer, High-penetrance genes, Mechanism, Variegated aneuploidy

العلاقة: Publisher's version; https://doi.org/10.1186/s12943-018-0762-8Test.; info:eu-repo/grantAgreement/ES/SAF2016-80888-R; info:eu-repo/grantAgreement/ES/SAF2015-68016-R; info:eu-repo/grantAgreement/ES/SAF2013-45836-R; info:eu-repo/grantAgreement/ES/PI16/00563; info:eu-repo/grantAgreement/ES/2014SGR338; Mol Cancer. 2018; 17 (1) : 23.; http://hdl.handle.net/20.500.12105/6585Test; Molecular cancer

الإتاحة: https://doi.org/20.500.12105/6585Test
https://doi.org/10.1186/s12943-018-0762-8Test
https://hdl.handle.net/20.500.12105/6585Test

المؤلفون: Ramón Y Cajal, Teresa, Chirivella, Isabel, Miranda, Josefa, Teule, Alexandre, Izquierdo, Ángel, Balmaña, Judith, Sánchez-Heras, Ana Beatriz, Llort, Gemma, Fisas, David, Lope Carvajal, Virginia, Hernandez-Agudo, Elena, Juan-Fita, María José, Tena, Isabel, Robles, Luis, Guillén-Ponce, Carmen, Pérez-Segura, Pedro, Luque-Molina, Mari Sol, Hernando-Polo, Susana, Salinas, Mónica, Brunet, Joan, Salas-Trejo, Dolores, Barnadas, Agustí, Pollan-Santamaria, Marina

المساهمون: Government of Catalonia (España), Federación Española de Cáncer de Mama, Asociación Española Contra el Cáncer, Instituto de Salud Carlos III

مصطلحات موضوعية: Adult, Breast Density, Breast Neoplasms, Female, Genes, BRCA1, BRCA2, Genetic Predisposition to Disease, Hereditary Breast and Ovarian Cancer Syndrome, Heterozygote, Humans, Mammary Glands, Human, Mammography, Middle Aged, Mutation, Odds Ratio, Risk Factors, Family

العلاقة: https://doi.org/10.1186/s13058-015-0604-1Test; info:eu-repo/grantAgreement/ES/PS09/01006; info:eu-repo/grantAgreement/ES/PS09/01024; info:eu-repo/grantAgreement/ES/PS09/01721; info:eu-repo/grantAgreement/ES/RD06/0020/1051; info:eu-repo/grantAgreement/ES/RD06/0020/1050; info:eu-repo/grantAgreement/ES/RD12/0036/0008; info:eu-repo/grantAgreement/ES/RD0036/0031; info:eu-repo/grantAgreement/ES/PI10/01422; info:eu-repo/grantAgreement/ES/PI13/00285; info:eu-repo/grantAgreement/ES/PIE13/00022; info:eu-repo/grantAgreement/ES/SGR290; Breast Cancer Res. 2015 Jul 11;17:93.; http://hdl.handle.net/20.500.12105/7606Test; Breast cancer research : BCR

الإتاحة: https://doi.org/20.500.12105/7606Test
https://doi.org/10.1186/s13058-015-0604-1Test
https://hdl.handle.net/20.500.12105/7606Test

المؤلفون: López-Lera, Alberto, Sanchez-Cabo, Fatima, Garrido, Sofía, Dopazo, Ana, López-Trascasa, Margarita

المساهمون: Centro de Investigación Biomedica en Red - CIBER, Ministerio de Ciencia e Innovación (España), Comunidad de Madrid (España)

مصطلحات موضوعية: Complement C1 Inhibitor Protein, Family, Female, Gene Expression Regulation, Hereditary Angioedema Types I and II, Humans, Leukocytes, Mononuclear, Male, Middle Aged, Oligonucleotide Array Sequence Analysis, Pedigree, RNA, Reverse Transcriptase Polymerase Chain Reaction, Genetic Association Studies, Mutation

العلاقة: Publisher's version; https://doi.org/10.1186/1750-1172-8-77Test; info:eu-repo/grantAgreement/ES/PI09/00122; Orphanet J Rare Dis. 2013; 8(1):77; http://hdl.handle.net/20.500.12105/7571Test; Orphanet journal of rare diseases

الإتاحة: https://doi.org/20.500.12105/7571Test
https://doi.org/10.1186/1750-1172-8-77Test
https://hdl.handle.net/20.500.12105/7571Test