المؤلفون: Peng Hou, Meiju Ji, Zhen Yang, Xinju Li, Lin Shi, Yiping Qu, Zhuanli Bai

المصدر: Cell Death and Disease, Vol 12, Iss 8, Pp 1-9 (2021)
Cell Death & Disease

مصطلحات موضوعية: Adult, Male, Gene isoform, Cancer Research, Neurofibromatosis 1, MAP Kinase Signaling System, Immunology, Biology, Models, Biological, Article, Germline, Young Adult, Cellular and Molecular Neuroscience, Cell Line, Tumor, Cancer genomics, medicine, Humans, Family, Genetic Predisposition to Disease, Amino Acid Sequence, Neurofibromatosis, Cancer genetics, Gene, Cell Proliferation, Genetics, Massive parallel sequencing, QH573-671, Infant, Membrane Proteins, RNA, Oncogenes, Cell Biology, Middle Aged, medicine.disease, Phenotype, Pedigree, Germ Cells, Chondroitin Sulfate Proteoglycans, Ectodomain, Child, Preschool, Mutation, Female, Cytology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::337f5be35d057aa31ca478ddcfc19314Test
https://doaj.org/article/a5dc62bed3204283bbc284b2c31f98f8Test

المؤلفون: Li-Yun Guo, Xiao-Lin Fu, Min Hu, Zhou Yuan, Xiao-Fan Zhang, Jie Yin, Qin Zhu, Tai-Cheng Zhou, Wen-Hua Duan, Guang-Long Zhou, Xue-Jiao Li, Jie-Ying Zhang, Zhi-Juan Hua, Dongmei Yang

المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-9 (2020)
Scientific Reports

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Mutation, Missense, lcsh:Medicine, Chromosomal translocation, medicine.disease_cause, Genetic analysis, Article, Young Adult, 03 medical and health sciences, Duane Retraction Syndrome, 0302 clinical medicine, Asian People, Chimerin 1, medicine, Humans, Missense mutation, Family, Child, lcsh:Science, Eye diseases, Gene, Exome sequencing, Genetics, Mutation, Multidisciplinary, biology, Disease genetics, Accession number (library science), lcsh:R, Middle Aged, Pedigree, 030104 developmental biology, 030221 ophthalmology & optometry, biology.protein, Female, lcsh:Q

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43463564c722620dc1f9507d1dd242c0Test
http://link.springer.com/article/10.1038/s41598-020-73190Test-1

المؤلفون: Seo Young Choi, Sang-Ho Kim, Seung-Han Lee, Hyo Jung Kim, Kwang-Dong Choi, Kyung-Pil Park, Hyang-Sook Kim, Dae-Seong Kim, Ji Soo Kim, Ileok Jung, Seong-Hae Jeong, Dong Uk Kim, Jae-Hwan Choi, Jin-Hong Shin

المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-11 (2017)
SCIENTIFIC REPORTS(7)
Scientific Reports

مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, DNA Mutational Analysis, lcsh:Medicine, CACNB4, medicine.disease_cause, 0302 clinical medicine, Child, lcsh:Science, Exome sequencing, Genetics, Mutation, Multidisciplinary, Middle Aged, Pedigree, Excitatory Amino Acid Transporter 1, Phenotype, Child, Preschool, Female, medicine.symptom, Adult, Adolescent, Ubiquitin-Protein Ligases, Biology, Article, 03 medical and health sciences, Young Adult, Republic of Korea, Exome Sequencing, medicine, Humans, Aged, Episodic ataxia, Cerebellar ataxia, Genetic heterogeneity, lcsh:R, medicine.disease, Cytoskeletal Proteins, 030104 developmental biology, biology.protein, Ataxia, Calmodulin-Binding Proteins, lcsh:Q, Calcium Channels, Kv1.1 Potassium Channel, 030217 neurology & neurosurgery, Biomarkers, Truncal ataxia

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ead6df5e1f430599e747013afa45621Test
http://link.springer.com/article/10.1038/s41598-017-14254-7Test

المؤلفون: S Gloudemans, Nicoline Hoogerbrugge, Jan C. Oosterwijk, Danielle Bodmer, K Ansink, AH van der Hout, M.J.L. Ligtenberg

المساهمون: Damage and Repair in Cancer Development and Cancer Treatment (DARE), Targeted Gynaecologic Oncology (TARGON)

المصدر: British Journal of Cancer
British Journal of Cancer, 95, 6, pp. 757-62
British Journal of Cancer, 95, 757-62
British Jounal of Cancer, 95(6), 757-762. Nature Publishing Group

مصطلحات موضوعية: Cancer Research, Genetics and epigenetic pathways of disease [NCMLS 6], SCORING SYSTEM, FAMILY-HISTORY, Cohort Studies, Statistics, Cutoff, Medicine, Molecular diagnosis, prognosis and monitoring [UMCN 1.2], RISK, Genetics, Ovarian Neoplasms, BRCA1 Protein, WOMEN, GERMLINE MUTATIONS, Middle Aged, PREVALENCE, Pedigree, ovarian cancer, Oncology, Growth and differentiation [NCMLS 3], Mutation (genetic algorithm), Female, Risk assessment, probability model, Adult, Risk management tools, Breast Neoplasms, Risk Assessment, Sensitivity and Specificity, OVARIAN-CANCER, Genomic disorders and inherited multi-system disorders [IGMD 3], Molecular epidemiology [NCEBP 1], Breast cancer, breast cancer, Translational research [ONCOL 3], Predictive Value of Tests, BREAST-CANCER, Humans, Genetic Predisposition to Disease, Selection (genetic algorithm), Probability, Retrospective Studies, BRCA2 Protein, Models, Statistical, Hereditary cancer and cancer-related syndromes [ONCOL 1], business.industry, Patient Selection, BRCA mutation, CANCER-SUSCEPTIBILITY GENES, Genetics and Genomics, medicine.disease, BRCA1, BRCA2, PREDICTION MODELS, Mutation, business, Predictive modelling

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c91cb990bb38281963a634238ccc915Test
http://europepmc.org/articles/PMC2360521Test