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المؤلفون: Tao Luo, Jiao Wang, Yuanyuan Xu, Yang Lan, Jia Ge, Feng Liu, Yaoyao Tan, Dandan Lin, Lihong Wang, Zhi-Cheng He, Min Luo, Zheng Zhu, Hua Zhang
المصدر: BMC Cancer, Vol 20, Iss 1, Pp 1-14 (2020)
BMC Cancerمصطلحات موضوعية: Male, 0301 basic medicine, Oncology, Cancer Research, 1p/19q Codeletion, medicine.disease_cause, 0302 clinical medicine, Surgical oncology, Gliomas, Child, Mutation, Brain Neoplasms, Glioma, Middle Aged, Cell cycle, Classification, Prognosis, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Isocitrate Dehydrogenase, Gene Expression Regulation, Neoplastic, Survival Rate, Chromosomes, Human, Pair 1, 030220 oncology & carcinogenesis, Nuclear transport, CGGA, Female, Chromosome Deletion, Research Article, Adult, medicine.medical_specialty, Adolescent, Active Transport, Cell Nucleus, Biology, lcsh:RC254-282, Young Adult, 03 medical and health sciences, Internal medicine, Biomarkers, Tumor, Gene signature, Genetics, medicine, Humans, Gene, Survival analysis, Aged, TCGA, medicine.disease, 030104 developmental biology, Transcriptome, Chromosomes, Human, Pair 19, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e7521ec6cf5b6cce72b0b28d8d4f603Test
https://doi.org/10.1186/s12885-020-07552-3Test -
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المؤلفون: Michael Rusch, Eric Davis, Heather L. Mulder, Samuel W. Brady, Jian Wang, Cheng Cheng, Xiaotu Ma, Michael A. Dyer, Michael Macias, Shaohua Lei, Jinghui Zhang, Xin Zhou, James R. Downing, Yanling Liu, Joy Nakitandwe, Arlene Naranjo, John M. Maris, Michael D. Hogarty, Alexander M. Gout, Kohei Hagiwara, John Easton, Xiao-Long Chen, Lu Wang, Nai-Kong V. Cheung
المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
Nature Communicationsمصطلحات موضوعية: Male, 0301 basic medicine, DNA Mutational Analysis, Datasets as Topic, General Physics and Astronomy, Genome informatics, medicine.disease_cause, Cohort Studies, Mitochondrial Ribosomes, Transcriptome, Pathogenesis, Neuroblastoma, 0302 clinical medicine, Cancer genomics, Anaplastic Lymphoma Kinase, Exome, Child, lcsh:Science, Cancer genetics, Regulation of gene expression, Mutation, Multidisciplinary, Age Factors, Gene Expression Regulation, Neoplastic, Child, Preschool, 030220 oncology & carcinogenesis, Female, Adult, Ribosomal Proteins, Adolescent, DNA Copy Number Variations, Science, Biology, Article, General Biochemistry, Genetics and Molecular Biology, Electron Transport, Paediatric cancer, Young Adult, 03 medical and health sciences, Biomarkers, Tumor, medicine, Humans, Receptor, Fibroblast Growth Factor, Type 1, neoplasms, ATRX, Whole Genome Sequencing, Point mutation, Infant, Newborn, Infant, General Chemistry, medicine.disease, 030104 developmental biology, Cancer research, lcsh:Q
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31387ae7dc12c1111fd8b645ccea194bTest
https://doi.org/10.1038/s41467-020-18987-4Test -
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المؤلفون: Christopher L. Sudduth, Alyaa Al-Ibraheemi, Jeremy A. Goss, Patrick Smits, Arin K. Greene, Dennis J. Konczyk
المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-5 (2020)
Scientific Reportsمصطلحات موضوعية: Adult, Male, endocrine system, Pathology, medicine.medical_specialty, Adolescent, Cell, Mutant, MAP Kinase Kinase 1, lcsh:Medicine, 030230 surgery, Biology, medicine.disease_cause, Article, Arteriovenous Malformations, Young Adult, 03 medical and health sciences, 0302 clinical medicine, MAP2K1, medicine, Humans, Child, lcsh:Science, Laser capture microdissection, Cartilage development, Mutation, Multidisciplinary, Disease genetics, Cartilage, lcsh:R, Endothelial Cells, Arteriovenous malformation, Prognosis, medicine.disease, Endothelial stem cell, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Female, lcsh:Q, Cartilage Diseases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::301ba76dd53bb77318f0ed6b4fecaefbTest
https://doi.org/10.1038/s41598-020-61444-xTest -
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المؤلفون: Ming Xu, Shuanghao Yang, Xue Zhang, Rongrong Wang, Weiyue Gu, Hongyan Liu, Jia Huang
المصدر: Science China Life Sciences. 61:947-953
مصطلحات موضوعية: Adult, Ankyrins, Male, 0301 basic medicine, China, Adolescent, Spherocytosis, Hereditary, Biology, medicine.disease_cause, General Biochemistry, Genetics and Molecular Biology, Hereditary spherocytosis, Young Adult, 03 medical and health sciences, Asian People, ANK1, Anion Exchange Protein 1, Erythrocyte, Exome Sequencing, medicine, Humans, Genetic Predisposition to Disease, Child, Exome, Gene, Exome sequencing, General Environmental Science, Family Health, Genetics, Mutation, Infant, Spectrin, medicine.disease, Pedigree, 030104 developmental biology, Child, Preschool, Female, General Agricultural and Biological Sciences, Haploinsufficiency, Congenital hemolytic anemia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::909c1197ef8e47bdc0caba752f41028aTest
https://doi.org/10.1007/s11427-017-9232-6Test -
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المؤلفون: Christine Lefevre, Ilham Moumna, Marie-Christine Vantyghem, Famara Sane, Ilka Engelmann, Enagnon Kazali Alidjinou, Agathe Baras, Didier Hober
المصدر: Acta Diabetologica. 54:1025-1029
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Endocrinology, Diabetes and Metabolism, 030106 microbiology, Coxsackievirus, Real-Time Polymerase Chain Reaction, medicine.disease_cause, Sensitivity and Specificity, Leukocyte Count, Young Adult, 03 medical and health sciences, Endocrinology, Enterovirus Infections, Leukocytes, Internal Medicine, medicine, Humans, Child, Cells, Cultured, Enterovirus, biology, Reverse Transcriptase Polymerase Chain Reaction, RNA, General Medicine, Middle Aged, biology.organism_classification, Virology, Molecular biology, Reverse transcriptase, Diabetes Mellitus, Type 1, 030104 developmental biology, Real-time polymerase chain reaction, Cell culture, Vero cell, RNA, Viral, Female, Viral load, Blood Chemical Analysis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba3f83c381b9d058afe84878ea590c13Test
https://doi.org/10.1007/s00592-017-1041-7Test -
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المؤلفون: Tuba Dinçer, Nurten A. Akarsu, Bayram Toraman, İdris Er, Yavuz Dodurga, Gülden Yorgancıoğlu-Budak, Adem Yıldırım, Özmert M.A. Özdemir, Nuran Sabir, C. Nur Semerci, Akgün Ölmez, Ersan Kalay
المصدر: European Journal of Human Genetics. 25:1118-1125
مصطلحات موضوعية: Male, 0301 basic medicine, Genome instability, dwarfism, genetic association, RNA splicing, Centriole, genotype, consanguineous marriage, Dwarfism, cell cycle G2 phase, DNA damage response, medicine.disease_cause, preschool child, fibroblast, centrin 1, gamma tubulin, single nucleotide polymorphism, genetics, microcephaly, Child, cellular distribution, Cells, Cultured, Genetics (clinical), Genetics, clinical article, Mutation, messenger RNA, adult, apoptosis, pedigree, Protein-Serine-Threonine Kinases, Disease gene identification, unclassified drug, female, chromosome 4q, priority journal, real time polymerase chain reaction, Child, Preschool, sister chromatid exchange, Chromosomal region, young adult, skin fibroblast, Chromosomes, Human, Pair 4, Mitosis, Protein Serine-Threonine Kinases, Biology, metaphase, Article, Genomic Instability, 03 medical and health sciences, protein serine threonine kinase, medicine, centriole, case report, Humans, controlled study, PLK4 protein, human, human, chromosome 4, RNA splice site, Centrosome, polo like kinase 4, cell culture, genome-wide association study, cell cycle progression, human cell, Infant, translation termination, DNA, gene mapping, Fibroblasts, school child, medicine.disease, human tissue, Seckel syndrome, 030104 developmental biology, Turk (people), cytology, DNA damage, pathology, homozygosity, Primordial dwarfism, metabolism, centrin
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ee9d34b5ad23572a65139b09ce9ed8bTest
https://doi.org/10.1038/ejhg.2017.120Test -
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المؤلفون: Magdalena Żurawek, Piotr Fichna, Anita Rogowicz-Frontczak, Dorota Zozulińska-Ziółkiewicz, Marek Ruchała, Maria Gryczyńska, Marta Fichna
المصدر: Endocrine
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Genotype, endocrine system diseases, Addison’s disease, Endocrinology, Diabetes and Metabolism, Autoimmunity, 030209 endocrinology & metabolism, Zinc Transporter 8, medicine.disease_cause, Young Adult, 03 medical and health sciences, Sex Factors, 0302 clinical medicine, Endocrinology, Addison Disease, Antigen, Risk Factors, Diabetes mellitus, medicine, Humans, ZnT8 autoantibody, Cation Transport Proteins, Aged, Autoantibodies, Aged, 80 and over, Type 1 diabetes, SLC30A8, biology, business.industry, Diabetes, Autoantibody, Middle Aged, medicine.disease, Cross-Sectional Studies, Diabetes Mellitus, Type 1, 030104 developmental biology, Addison's disease, Immunology, biology.protein, Original Article, Female, Antibody, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::356fb07216cc2ea5dfc56cec3e03a939Test
https://doi.org/10.1007/s12020-016-0916-7Test -
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المؤلفون: Xiaojia Zhai, Zheng Wang, Bin Mao, Tao Yang, Xue Zhang, Siyu Chen, Xin Chen, Lulu Li, Xiuli Zhao, Xiumei Yu
المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-9 (2018)مصطلحات موضوعية: Male, 0301 basic medicine, DNA Mutational Analysis, 030105 genetics & heredity, medicine.disease_cause, Genotype-phenotype distinction, Child, Genetics (clinical), Aged, 80 and over, Genetics, Sanger sequencing, Mutation, Neurofibromin 1, Middle Aged, Phenotype, symbols, Female, Restriction fragment length polymorphism, Research Article, Adult, lcsh:Internal medicine, Heterozygote, Neurofibromatosis 1, lcsh:QH426-470, Adolescent, Genotype, Pseudogene, Biology, Young Adult, 03 medical and health sciences, symbols.namesake, Germline mutation, Asian People, medicine, Humans, Neurofibromatosis, lcsh:RC31-1245, Gene, Genetic Association Studies, Aged, Chinese, medicine.disease, eye diseases, lcsh:Genetics, Clinical manifestations, 030104 developmental biology, The NF1 gene, Multiplex Polymerase Chain Reaction, Neurofibromatosis type 1
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9027063510c85fddbb2c5634f028926Test
https://doi.org/10.1186/s12881-018-0615-8Test -
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المؤلفون: Xiao-jie Xu, Fang Lv, Ou Wang, Weibo Xia, Yi Liu, Yan Jiang, Mei Li, Jian-yi Wang, Dou-dou Ma, Jiawei Wang, Asan, Xiaoping Xing, Li-jie Song
المصدر: Journal of Human Genetics. 62:205-211
مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Compound heterozygosity, medicine.disease_cause, Zoledronic Acid, Fractures, Bone, Exon, 0302 clinical medicine, Bone Density, Genotype, Child, Genetics (clinical), Sanger sequencing, Mutation, Bone Density Conservation Agents, Diphosphonates, Imidazoles, High-Throughput Nucleotide Sequencing, Osteogenesis Imperfecta, Osteogenesis imperfecta, Child, Preschool, symbols, Female, medicine.drug, Adult, China, medicine.medical_specialty, 030209 endocrinology & metabolism, Biology, Collagen Type I, Tacrolimus Binding Proteins, Young Adult, 03 medical and health sciences, symbols.namesake, Asian People, Internal medicine, Genetics, medicine, Humans, Bone Resorption, Base Sequence, Membrane Proteins, Sequence Analysis, DNA, medicine.disease, Molecular biology, Collagen Type I, alpha 1 Chain, 030104 developmental biology, Endocrinology, Zoledronic acid
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afa8fe357da4af210baa276d8332c03aTest
https://doi.org/10.1038/jhg.2016.109Test -
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المؤلفون: Ali Anvar, Ali Namvar, Alireza Azizi Saraji, Bita Behnava, Niloofar Khairkhah, Sayed Hamid Mousavi, Seyed Moayed Alavian, Tina Delsouz Bahri
المصدر: Scientific Reports, Vol 9, Iss 1, Pp 1-6 (2019)
Scientific Reportsمصطلحات موضوعية: Male, 0301 basic medicine, Blood transfusion, viruses, Hepacivirus, medicine.medical_treatment, lcsh:Medicine, HIV Infections, medicine.disease_cause, 0302 clinical medicine, hemic and lymphatic diseases, Prevalence, Child, lcsh:Science, Human T-lymphotropic virus 1, Multidisciplinary, biology, Incidence (epidemiology), virus diseases, Hepatitis B, Hepatitis C, Child, Preschool, Adult, Hepatitis B virus, Adolescent, Erythema Infectiosum, Hemophilia A, Haemophilia, Article, Young Adult, 03 medical and health sciences, Blood-Borne Pathogens, medicine, Humans, Blood Transfusion, Hepatitis, Parvovirus, business.industry, Infectious-disease diagnostics, lcsh:R, Afghanistan, biology.organism_classification, medicine.disease, HTLV-I Infections, Virology, 030104 developmental biology, Viral infection, lcsh:Q, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b761e4b738a69b4823797dbd358cb2e3Test
https://doi.org/10.1038/s41598-019-43541-8Test