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المؤلفون: Elena Aguirre, Santiago González-Santiago, Leire Andrés, Judith Balmaña, Gemma Llort, Izaskun Rubio, Maria-Isabel Tejada, Cristina Martínez-Bouzas, Eduardo Ibáñez-Feijoo, Hiart Maortua, Pilar Blay
المصدر: Oncology. 91:171-176
مصطلحات موضوعية: Adult, 0301 basic medicine, Oncology, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, medicine.medical_specialty, DNA Mismatch Repair, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Neoplasm, Prospective Studies, Prospective cohort study, Retrospective Studies, Gynecology, business.industry, Endometrial cancer, Age Factors, Microsatellite instability, Retrospective cohort study, General Medicine, Middle Aged, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Lynch syndrome, Endometrial Neoplasms, DNA-Binding Proteins, MutS Homolog 2 Protein, 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation, Female, Microsatellite Instability, DNA mismatch repair, MutL Protein Homolog 1, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51d5e862bb7ff16d1d65905293ee3fc7Test
https://doi.org/10.1159/000447972Test -
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المؤلفون: Izaskun Rubio, Encarna Guillen, Hiart Maortua, Maria-Rosario Domingo, Ainhoa García-Ribes, Miriam Guitart, Maria-Isabel Tejada, M. Martinez, María-Asunción López-Aríztegui, María-Teresa Calvo, María-Pilar Botella, Cristina Martínez-Bouzas, Elisabeth Gabau, Blanca Gener
المصدر: The Journal of Molecular Diagnostics. 15:723-729
مصطلحات موضوعية: Genetics, Case-control study, Rett syndrome, Biology, medicine.disease, Pathology and Forensic Medicine, Xq28, MECP2, Exon, Intellectual disability, medicine, Molecular Medicine, Atypical Rett syndrome, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8ef72693efeafa8eac951fc204d24ae4Test
https://doi.org/10.1016/j.jmoldx.2013.05.002Test -
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المؤلفون: Izaskun Rubio Ollo, Cristina Prieto Valtuille, Miguel Rueda Gutiérrez, Arantza Arza Ruesga, Raquel Pérez Garay, Antonio López-Urrutia Fernández, Amaia García de Vicuña
المصدر: Revista del Laboratorio Clínico. 3:37-39
مصطلحات موضوعية: Biochemistry (medical), Clinical Biochemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::415c29079e640fc6e1fa2ab6c527e666Test
https://doi.org/10.1016/j.labcli.2009.06.006Test -
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المؤلفون: Izaskun Rubio Ollo, Mercedes Regulez Uranga, Cristina Prieto Valtuille, Raquel Pérez Garay, A. López-Urrutia Fernández, Begoña Basauri Elorza
المصدر: Revista del Laboratorio Clínico. 1:68-70
مصطلحات موضوعية: Hemophagocytic lymphohistiocytosis, Pathology, medicine.medical_specialty, biology, business.industry, Inflammatory response, Biochemistry (medical), Clinical Biochemistry, medicine.disease, Ferritin, Male patient, Immunology, biology.protein, Medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::af5b02960efc3b3d718695f1bdf27705Test
https://doi.org/10.1016/j.labcli.2008.06.001Test -
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المؤلفون: Hiart, Maortua, Cristina, Martínez-Bouzas, Ainhoa, García-Ribes, María-Jesus, Martínez, Encarna, Guillen, María-Rosario, Domingo, María-Teresa, Calvo, Miriam, Guitart, Elisabeth, Gabau, María-Pilar, Botella, Blanca, Gener, Izaskun, Rubio, María-Asunción, López-Aríztegui, María-Isabel, Tejada
المصدر: The Journal of molecular diagnostics : JMD. 15(5)
مصطلحات موضوعية: Male, Phenotype, Polymorphism, Genetic, Methyl-CpG-Binding Protein 2, Case-Control Studies, Mutation, Rett Syndrome, Computational Biology, Heredodegenerative Disorders, Nervous System, Humans, Female, Exons
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::6befbabc2f8f8ead9914cf9b87564325Test
https://pubmed.ncbi.nlm.nih.gov/23810759Test -
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المؤلفون: Cristina Martínez-Bouzas, Maria-Isabel Tejada, M. Martinez, Maria-Rosario Domingo, Nerea Puente, María-Teresa Calvo, Feliciano J. Ramos, María-Asunción López-Aríztegui, Hiart Maortua, Ainhoa García-Ribes, Izaskun Rubio
المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 13, Iss 1, p 68 (2012)مصطلحات موضوعية: lcsh:Internal medicine, lcsh:QH426-470, Methyl-CpG-Binding Protein 2, Developmental Disabilities, Molecular Sequence Data, CDKL5, Rett syndrome, Protein Serine-Threonine Kinases, Biology, Bioinformatics, Severity of Illness Index, Frameshift mutation, MECP2, Epilepsy, Catalytic Domain, Genetics, medicine, Humans, Genetics(clinical), Atypical Rett syndrome, Genetic Testing, Multiplex ligation-dependent probe amplification, Age of Onset, lcsh:RC31-1245, Child, Genetics (clinical), Gene Rearrangement, Base Sequence, Exons, Gene rearrangement, medicine.disease, MLPA, lcsh:Genetics, Child, Preschool, Mutation, Female, Multiplex Polymerase Chain Reaction, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a59d8fd68c4439b1e87e0c52759dd12Test
https://doi.org/10.1186/1471-2350-13-68Test