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Geoheritage, ISSN 1867-2477, 9/2018, Volume 10, Issue 3, pp. 463 - 472
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Cretaceous research, ISSN 0195-6671, 06/2020, Volume 110, p. 104409
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Cretaceous research, ISSN 0195-6671, 04/2020, Volume 108, p. 104343
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International journal of cancer, ISSN 0020-7136, 07/2019, Volume 145, Issue 2, pp. 401 - 414
alternative splicing | lynch syndrome | HEREDITARY BREAST | CLASSIFICATION | RISK | UNCLASSIFIED VARIANTS | targeted RNA-seq | BRCA1 | OVARIAN-CANCER | PREDICTION | RAD51C | inherited breast | GERMLINE MUTATIONS | ASSAYS | ovarian cancer syndrome | BRCA1/2 | inherited breast/ovarian cancer syndrome | targeted RNA‐seq | Life Sciences & Biomedicine | Oncology | Science & Technology | Hereditary Breast and Ovarian Cancer Syndrome - genetics | Genetic Predisposition to Disease | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | Humans | DNA-Binding Proteins - genetics | Sequence Analysis, RNA - methods | BRCA1 Protein - genetics | Electrophoresis, Capillary | RNA Splicing | Cell Line, Tumor | Female | Mutation | BRCA2 Protein - genetics | RNA | Genes | Genetic research | Disease susceptibility | Genetic aspects | Genetic engineering | Cancer | Alternative splicing | Ovarian carcinoma | Change detection | p53 Protein | E-cadherin | Ovarian cancer | Gene sequencing | MSH6 protein | Electrophoresis | BRCA2 protein | Splicing | BRCA1 protein | MLH1 protein | Anemia | Capillary electrophoresis | MSH2 protein | Breast cancer | Ribonucleic acid--RNA | Gene expression | Genetic variance | Pili | Isoforms | Breast | PTEN protein | Index Medicus | 2 | Cancer Genetics and Epigenetics | Basic Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | Klinisk medicin | Clinical Medicine | Medicinsk genetik | Medical Genetics | Medicinska och farmaceutiska grundvetenskaper | Cancer and Oncology | Cancer och onkologi
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5.
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer
JAMA : the journal of the American Medical Association, ISSN 0098-7484, 04/2015, Volume 313, Issue 13, pp. 1347 - 1361
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Genetic Predisposition to Disease | Humans | Middle Aged | Risk Factors | Nucleotides | Ovarian Neoplasms - genetics | Breast Neoplasms - genetics | Age of Onset | Genes, BRCA2 | Adult | Female | Heterozygote | Genes, BRCA1 | Mutation | Disease prevention | Breast cancer | Womens health | Risk factors | Ovarian cancer
Journal Article
Journal of medical genetics, ISSN 0022-2593, 05/2012, Volume 49, Issue 5, pp. 341 - 344
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Gynecology. Andrology. Obstetrics | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Female genital diseases | Tumors | Genetic Predisposition to Disease - genetics | Humans | Middle Aged | Risk Factors | Logistic Models | Leukocytes, Mononuclear | Telomere Shortening - genetics | Case-Control Studies | DNA - blood | Ovarian Neoplasms - epidemiology | Ovarian Neoplasms - genetics | DNA - analysis | Spain - epidemiology | Adult | Female | Genetic Predisposition to Disease - epidemiology | Real-Time Polymerase Chain Reaction | Telomere - genetics | Telomeres | Care and treatment | Genetic disorders | Genomes | Genetic aspects | Research | Ovarian cancer | Index Medicus
Journal Article
Human mutation, ISSN 1059-7794, 05/2019, Volume 40, Issue 5, pp. 566 - 577
breast cancer | RECQL5 | germline pathogenic variant | whole exome sequencing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Computational Biology - methods | Genetic Predisposition to Disease | Multigene Family | Alternative Splicing | Genetic Association Studies | RecQ Helicases - metabolism | Humans | RecQ Helicases - genetics | Loss of Heterozygosity | Biomarkers, Tumor | Breast Neoplasms - metabolism | Whole Exome Sequencing | Genetic Variation | BRCA1 Protein - genetics | Breast Neoplasms - genetics | Breast Neoplasms - pathology | DNA Mutational Analysis | Pedigree | Female | BRCA2 Protein - genetics | Analysis | DNA | Genetic research | Breast cancer | Genetic aspects | Disease susceptibility | Cancer | Pathogenicity | DNA helicase | BRCA1 protein | Index Medicus
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Human mutation, ISSN 1059-7794, 09/2019, Volume 40, Issue 9, pp. 1557 - 1578
uncertain significance | RISKS | GUIDELINES | multifactorial | SEQUENCE VARIANTS | BRCA1 | BRCA2 | classification | SPLICING ANALYSIS | INTEGRATED EVALUATION | BREAST-CANCER | clinical | FUNCTIONAL ASSAYS | quantitative | variant | CLINGEN | OVARIAN | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Computational Biology - methods | Genetic Predisposition to Disease | Alternative Splicing | Early Detection of Cancer | Humans | Male | Neoplasms - diagnosis | Mutation, Missense | Multifactorial Inheritance | BRCA1 Protein - genetics | Likelihood Functions | Neoplasms - genetics | Female | BRCA2 Protein - genetics | RNA | Segregation | BRCA2 protein | Pathogenicity | Splicing | AMP | BRCA1 protein | Classification | Breast cancer | mRNA | Index Medicus | Life Sciences | Human health and pathology | Special | Medicinsk genetik | Basic Medicine | Medical Genetics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
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