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المؤلفون: Arshia Angural, Akshi Spolia, Ankit Mahajan, Vijeshwar Verma, Ankush Sharma, Parvinder Kumar, Manoj Kumar Dhar, Kamal Kishore Pandita, Ekta Rai, Swarkar Sharma
المصدر: Frontiers in Genetics, Vol 11 (2020)
Frontiers in Geneticsمصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, lcsh:QH426-470, Population, India, Context (language use), Review, Consanguinity, Biology, Bottom-up Approach, 03 medical and health sciences, 0302 clinical medicine, consanguinity, Environmental health, Epidemiology, Genetics, medicine, Next-Generation DNA Sequencing, Allele, education, Genetics (clinical), education.field_of_study, Jammu and Kashmir, endogamy, rare diseases, lcsh:Genetics, 030104 developmental biology, Endogamy, 030220 oncology & carcinogenesis, Molecular Medicine, Gene pool, Inbreeding
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9e4df24d066893d6ea1ae06508c2b3d
https://www.frontiersin.org/article/10.3389/fgene.2020.00415/full -
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المؤلفون: Melek Yuce, Sengul Tural, Ayfer Kamali Polat, Betul Z. Celik, Esra Tekcan, Ufuk Karabacak, Nurten Kara
المساهمون: Ondokuz Mayıs Üniversitesi
المصدر: Gene. 746
مصطلحات موضوعية: 0301 basic medicine, Male, Genotype, Turkey, Biology, RET proto-oncogene, Proto-Oncogene Mas, DNA sequencing, Thyroid cancer, law.invention, Thyroid carcinoma, 03 medical and health sciences, Exon, 0302 clinical medicine, law, Genetics, medicine, Humans, Thyroid Neoplasms, Polymerase chain reaction, Next-generation DNA sequencing, Polymorphism, Genetic, Proto-Oncogene Proteins c-ret, General Medicine, Middle Aged, medicine.disease, Molecular biology, Genotype frequency, genomic DNA, 030104 developmental biology, 030220 oncology & carcinogenesis, RET protooncogene, Female
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المؤلفون: Inga S. Grills, Bryan J. Thibodeau, Samreen Ahmed, George S. Wilson, Paola Yumpo Cardenas, Matthew D Johnson
المصدر: Oncotarget
مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, targeted agents, medicine.medical_treatment, Disease, Metastasis, 03 medical and health sciences, 0302 clinical medicine, brain metastases, Internal medicine, medicine, Predictive testing, Lung cancer, non-small cell lung cancer, radiotherapy, PI3K/AKT/mTOR pathway, business.industry, next generation DNA sequencing, medicine.disease, BCL6, respiratory tract diseases, Radiation therapy, 030104 developmental biology, 030220 oncology & carcinogenesis, business, Research Paper, Brain metastasis
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::accae311fdabe1eb2493b737ee8e0d9c
https://doi.org/10.18632/oncotarget.25409 -
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المؤلفون: Faisal A. Al-Allaf, Khalid Alquthami, Mohammad Athar, Mohiuddin M. Taher, Muhammad Saeed, Abdellatif Bouazzaoui, Tahani H Nageeti, Ejaz Muhammad Butt, Sabra Hasan ALyami, Zainularifeen Abduljaleel
المصدر: F1000Research
مصطلحات موضوعية: Silent mutation, 0301 basic medicine, IDH1, Next Generation DNA sequencing, DNA Mutational Analysis, Ion Proton, PDGFRA, Biology, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Perivascular psuedorossettes, 0302 clinical medicine, Missense mutation, Humans, HRAS, General Pharmacology, Toxicology and Pharmaceutics, neoplasms, ERBB4, Splice site mutation, General Immunology and Microbiology, Brain Neoplasms, Anaplastic Ependymoma, pediatric brain tumors, High-Throughput Nucleotide Sequencing, General Medicine, Articles, Glioma, Molecular biology, 030104 developmental biology, Ependymoma, 030220 oncology & carcinogenesis, Mutation, Palisading necrosis, Synonymous substitution, Research Article
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المؤلفون: Muhammad Saeed, Abdellatif Bouazzaoui, Faisal A. Allaf, Tahani H Nageeti, Amal Ali Hassan, Ghida Dairi, Zainularifeen Abduljaleel, Hisham Alkhalidi, Mohammad Athar, Raid A. Jastania, Wafa M. El‑Bjeirami, Mohiuddin M. Taher
المصدر: Oncology Letters
مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Nonsense mutation, Biology, DNA sequencing, ataxia-telangiectasia, ion proton, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, medicine, Missense mutation, Choroid plexus tumor, Genetics, brain cancer, next generation DNA sequencing, Articles, Choroid plexus carcinoma, medicine.disease, Choroid plexus papilloma, 030104 developmental biology, Oncology, 030220 oncology & carcinogenesis, ATM, choroid plexus papilloma, Phred quality score
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المؤلفون: Frits R. Rosendaal, Astrid van Hylckama Vlieg, Paolo Bucciarelli, Hugoline G. de Haan, Marcin M. Gorski, Luca A. Lotta, Emanuela Pappalardo, Ida Martinelli, Andrea Cairo, Flora Peyvandi, Ilaria Mancini, Serena M. Passamonti
المصدر: Thrombosis Research, 169, 76-81
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Candidate gene, Locus (genetics), Single-nucleotide polymorphism, 030204 cardiovascular system & hematology, Biology, Polymorphism, Single Nucleotide, Linkage Disequilibrium, Cerebral vein thrombosis, ABO Blood-Group System, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, INDEL Mutation, rs8176719, ABO blood group system, Factor V Leiden, medicine, Humans, Genetic Predisposition to Disease, Indel, Genetic association, Next-generation DNA sequencing, Genetics, ABO blood group, High-Throughput Nucleotide Sequencing, Hematology, Sequence Analysis, DNA, Middle Aged, medicine.disease, Cerebral Veins, Minor allele frequency, 030104 developmental biology, Case-Control Studies, Female, Intracranial Thrombosis
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a45acdfb880ffaa18e981ed6a21b425a
http://hdl.handle.net/1887/96173 -
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المؤلفون: Anne Marcil, Kevin A. Henry, Serge Muyldermans, Henk van Faassen, C. Roger MacKenzie, Jennifer J. Hill, Doreen Harcus
المساهمون: Cellular and Molecular Immunology, Department of Bio-engineering Sciences
المصدر: Immunogenetics. 71(4)
مصطلحات موضوعية: 0301 basic medicine, medicine.drug_class, Immunology, VHH, chemical and pharmacologic phenomena, Immunogenetics, Biology, Immunoglobulin light chain, Monoclonal antibody, Immunophenotyping, 03 medical and health sciences, Exon, Mice, 0302 clinical medicine, medicine, Animals, genetics, B cell, Heavy chain-only antibody, llama, Next-generation DNA sequencing, single-domain antibody, B-Lymphocytes, Antibodies, Monoclonal, Genetic Variation, High-Throughput Nucleotide Sequencing, Molecular biology, Complementarity Determining Regions, V H, 030104 developmental biology, Single-domain antibody, medicine.anatomical_structure, Immunoglobulin G, biology.protein, Antibody, IGHV@, Immunoglobulin Heavy Chains, Camelids, New World, 030215 immunology
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المؤلفون: Ghida Dairi, Khalid Alquthami, Mohiuddin M. Taher, Faisal A. Al-Allaf, Ejaz Muhammad Butt, Neda M. Bogari, Hisham Alkhalidi, Tahani H Nageeti, Kristoffer Valerie, Mohammad Athar, Raid A. Jastania
المصدر: Oncology Letters
مصطلحات موضوعية: 0301 basic medicine, Silent mutation, Cancer Research, IDH1, education, Population, Saudi Arabia, Biology, IDH2, molecular diagnostics, 03 medical and health sciences, 0302 clinical medicine, molecular pathology, glioma, Glioma, medicine, Intronic Mutation, Missense mutation, brain cancer, education.field_of_study, RT-qPCR, next-generation DNA sequencing, Articles, personalized medicine, medicine.disease, capillary sequencing, 030104 developmental biology, Isocitrate dehydrogenase, Oncology, 030220 oncology & carcinogenesis, Cancer research, isocitrate dehydrogenase
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المؤلفون: Kevin A. Henry, Jamshid Tanha, John C. Zwaagstra, C. Roger MacKenzie, Greg Hussack, Cathy Collins
مصطلحات موضوعية: 0301 basic medicine, Male, TGF-β, Phage display, Bioengineering, VHH, Biochemistry, Epitope, DNA sequencing, 03 medical and health sciences, Epitopes, 0302 clinical medicine, Antibody Specificity, Transforming Growth Factor beta, antibody, Animals, Receptor, Panning (camera), Molecular Biology, single-domain antibody, biology, Chemistry, Protein Stability, High-Throughput Nucleotide Sequencing, next-generation DNA sequencing, Sequence Analysis, DNA, Single-Domain Antibodies, Molecular biology, Antibodies, Neutralizing, 030104 developmental biology, Single-domain antibody, Ectodomain, 030220 oncology & carcinogenesis, biology.protein, Antibody, phage display, Camelids, New World, Biotechnology
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d46a9269277313b4101a4b9576674a79
https://doi.org/10.1093/protein/gzw043 -
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المؤلفون: Andres Digenio, Alan Jones, Erik S.G. Stroes, Eric Bruckert, Robert A. Hegele, Jian Wang, Amanda J. Berberich, Joseph L. Witztum, Fernando Civeira, Veronica J. Alexander, Daniel Gaudet, Matthew R. Ban, Marcello Arca, Jean Bergeron, Laura D'Erasmo
المساهمون: ACS - Atherosclerosis & ischemic syndromes, Vascular Medicine
المصدر: Journal of clinical lipidology, 12(4), 920-927.e4. Elsevier BV
مصطلحات موضوعية: Male, 0301 basic medicine, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, 030204 cardiovascular system & hematology, 0302 clinical medicine, Next-generation DNA sequencing, Hypertriglyceridemia, Lipoprotein lipase, Nutrition and Dietetics, digestive, oral, and skin physiology, GPIHBP1, Familial chylomicronemia syndrome, Genetic variation, Genetics, Lipolysis, Pancreatitis, Type I hyperlipoproteinemia, Volanesorsen, Middle Aged, Postprandial, Female, Hyperlipoproteinemia Type I, lipids (amino acids, peptides, and proteins), Cardiology and Cardiovascular Medicine, Adult, medicine.medical_specialty, 03 medical and health sciences, Internal medicine, Internal Medicine, medicine, Humans, Triglycerides, Aged, Receptors, Lipoprotein, Polymorphism, Genetic, business.industry, Insulin, Membrane Proteins, nutritional and metabolic diseases, Cholesterol, LDL, medicine.disease, Lipoprotein Lipase, 030104 developmental biology, Endocrinology, Apolipoprotein A-V, business, Chylomicron, Lipoprotein