المؤلفون: Pragya Ahuja, Abdul Waris, Sheelu Shafiq Siddiqui, Amit Mukherjee

المصدر: Journal of Genetic Engineering and Biotechnology, Vol 20, Iss 1, Pp 1-15 (2022)

مصطلحات موضوعية: Receptor for advanced glycation end products (AGER), single nucleotide variants (SNV), diabetic retinopathy, Gene marker, Risk factor, Biotechnology, TP248.13-248.65, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-5920

URL الوصول: https://doaj.org/article/6ef30d18c6a24f96868b3be8787d00e5

المؤلفون: Kleo, Karsten, Jovanovic, Vladimir M., Arndold, Alexander, Lehmann, Annika, Lammert, Hedwig, Berg, Erika, Harloff, Hannah, Treese, Christoph, Hummel, Michael, Daum, Severin

مصطلحات موضوعية: Gastric and esophagogastric adenocarcinoma, Perioperative chemotherapy, Histopathological response according to Becker score, Predictive biomarker in pre-therapeutic biopsies, Single nucleotide variants (SNV), copy number variations (CNV), gene expression, ddc:610

وصف الملف: application/pdf

الاتاحة: https://refubium.fu-berlin.de/handle/fub188/44988
https://doi.org/10.17169/refubium-44699
https://doi.org/10.1007/s00432-022-03944-z

المؤلفون: Jadhao, Sudhir, Hoy, Wendy, Lee, Simon, Patel, Hardip R., McMorran, Brendan J., Flower, Robert L., Nagaraj, Shivashankar H.

المصدر: Transfusion

مصطلحات موضوعية: alloimmunisation, blood group system, next-generation sequencing (NGS), novel antigen, rare antigen, red blood cells, single nucleotide variants (SNV), transfusion, weak antigen

وصف الملف: application/pdf

Relation: https://eprints.qut.edu.au/235683/1/Transfusion_2022_Jadhao_The_genomic_landscape_of_blood_groups_in_Indigenous_Australians_in_remote_communities.pdf; Jadhao, Sudhir, Hoy, Wendy, Lee, Simon, Patel, Hardip R., McMorran, Brendan J., Flower, Robert L., & Nagaraj, Shivashankar H. (2022) The genomic landscape of blood groups in Indigenous Australians in remote communities. Transfusion, 62(5), pp. 1110-1120.; https://eprints.qut.edu.au/235683/; Centre for Genomics and Personalised Health; Faculty of Health; School of Biomedical Sciences

الاتاحة: https://eprints.qut.edu.au/235683/

المؤلفون: Riley J. Leonard, Claudia C. Preston, Melanie E. Gucwa, Yohannes Afeworki, Arielle S. Selya, Randolph S. Faustino

المصدر: Frontiers in Cardiovascular Medicine, Vol 7 (2020)

مصطلحات موضوعية: single nucleotide variants (SNV), nucleoporins, network biology and protein-protein interactions, atrial fibrillation (AF), nuclear envelope (NE), Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcvm.2020.630993/full; https://doaj.org/toc/2297-055X

URL الوصول: https://doaj.org/article/c7df8ed4f99a4aecb80a3978885cbcf3

المؤلفون: Narissara Suratannon, Rogier T. A. van Wijck, Linda Broer, Laixi Xue, Joyce B. J. van Meurs, Barbara H. Barendregt, Mirjam van der Burg, Willem A. Dik, Pantipa Chatchatee, Anton W. Langerak, Sigrid M. A. Swagemakers, Jacqueline A. C. Goos, Irene M. J. Mathijssen, Virgil A. S. H. Dalm, Kanya Suphapeetiporn, Kim C. Heezen, Jose Drabwell, André G. Uitterlinden, Peter J. van der Spek, P. Martin van Hagen, The South East Asia Primary Immunodeficiencies (SEAPID) Consortium

المصدر: Frontiers in Immunology, Vol 11 (2020)

مصطلحات موضوعية: primary immunodeficiencies, microarray-based genotyping, SNP microarray, single nucleotide variants (SNV) calling, copy number variants (CNV) calling, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fimmu.2020.00614/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/2b37dbfc533b442aad705ee9c4ba4dda

المؤلفون: ARNAL SEGURA, MAGDALENA

المساهمون: ARNAL SEGURA, Magdalena, TARTAGLIA, GIAN GAETANO, CRUCIANI, Fulvio

مصطلحات موضوعية: Genetic, population genomic, genome-wide association studies (GWAS), single nucleotide variants (SNV), polygenic risk scores (PRS), linkage disequilibrium, machine learning

Relation: numberofpages:151; https://hdl.handle.net/11573/1706863

الاتاحة: https://hdl.handle.net/11573/1706863

المؤلفون: Juan M Vargas-Morales, Samuel Salazar-García, Alejandro Ibañez Salazar, Eunice Lares, Noemí Gaytan Pacheco, Edith Elena Uresti-Rivera, Diana P. Portales-Pérez, Ulises De la Cruz-Mosso

مصطلحات موضوعية: Genetics not elsewhere classified, Clinical chemistry (incl. diagnostics), Medical genetics (excl. cancer genetics), SIRT1, Obesity, single nucleotide variants (SNV), Genetic Association

Relation: https://figshare.com/articles/dataset/Dataset_-Analysis_of_SIRT1_genetic_variants_in_young_Mexican_individuals_xlsx/25332040

الاتاحة: https://doi.org/10.6084/m9.figshare.25332040.v1
https://figshare.com/articles/dataset/Dataset_-Analysis_of_SIRT1_genetic_variants_in_young_Mexican_individuals_xlsx/25332040

المؤلفون: C. S. Paththinige, J. R. D. K. Rajapakse, G. R. Constantine, K. P. Sem, R. R. Singaraja, R. W. Jayasekara, V. H. W. Dissanayake

المصدر: Lipids in Health and Disease, Vol 17, Iss 1, Pp 1-7 (2018)

مصطلحات موضوعية: Familial hypercholesterolemia, LDLR gene, Single nucleotide variants (SNV), Nutritional diseases. Deficiency diseases, RC620-627

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12944-018-0763-z; https://doaj.org/toc/1476-511X

URL الوصول: https://doaj.org/article/bdd367da016249549c5d5e162d07cd0f

المؤلفون: Jason D. Gillman, Won-Seok Kim, Bo Song, Nathan W. Oehrle, Nilesh R. Tawari, Shanshan Liu, Hari B. Krishnan

المصدر: G3: Genes, Genomes, Genetics, Vol 7, Iss 7, Pp 2345-2352 (2017)

مصطلحات موضوعية: soybean, Glycine max, glycinin, genomic resequencing, seed proteomics, single nucleotide variants (SNV), amino acid changes (AAC), Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2160-1836

URL الوصول: https://doaj.org/article/d992c1dbce764612909ab278b96f870d

المؤلفون: Riley J. Leonard, Claudia C. Preston, Melanie E. Gucwa, Yohannes Afeworki, Arielle S. Selya, Randolph S. Faustino

المصدر: Frontiers in Cardiovascular Medicine, Vol 7 (2020)

مصطلحات موضوعية: single nucleotide variants (SNV), nucleoporins, network biology and protein-protein interactions, atrial fibrillation (AF), nuclear envelope (NE), Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fcvm.2020.00008/full; https://doaj.org/toc/2297-055X

URL الوصول: https://doaj.org/article/71d0c88fbfae41e0a42a237eded1f1a3

المؤلفون: Suratannon, N., Wijck, R.T.A. van, Broer, L., Xue, L.X., Meurs, J.B.J. van, Barendregt, B.H., Burg, M. van der, Dik, W.A., Chatchatee, P., Langerak, A.W., Swagemakers, S.M.A., Goos, J.A.C., Mathijssen, I.M.J., Dalm, V.A.S.H., Suphapeetiporn, K., Heezen, K.C., Drabwell, J., Uitterlinden, A.G., Spek, P.J. van der, Hagen, P.M. van, South East Asia Primary Immunode

المصدر: Frontiers in Immunology

مصطلحات موضوعية: primary immunodeficiencies, microarray-based genotyping, SNP microarray, single nucleotide variants (SNV) calling, copy number variants (CNV) calling

وصف الملف: application/pdf

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2020.00614/full; lumc-id: 115543824; https://hdl.handle.net/1887/3185373

الاتاحة: https://hdl.handle.net/1887/3185373
https://www.frontiersin.org/articles/10.3389/fimmu.2020.00614/full
https://doi.org/10.3389/fimmu.2020.00614

المؤلفون: Riley J. Leonard, Claudia C. Preston, Melanie E. Gucwa, Yohannes Afeworki, Arielle S. Selya, Randolph S. Faustino

مصطلحات موضوعية: Cardiology, Cardiology (incl. Cardiovascular Diseases), Cardiorespiratory Medicine and Haematology not elsewhere classified, single nucleotide variants (SNV), nucleoporins, network biology and protein-protein interactions, atrial fibrillation (AF), nuclear envelope (NE)

Relation: https://figshare.com/articles/dataset/Table_1_Protein_Subdomain_Enrichment_of_NUP155_Variants_Identify_a_Novel_Predicted_Pathogenic_Hotspot_pdf/11820432

الاتاحة: https://doi.org/10.3389/fcvm.2020.00008.s001
https://figshare.com/articles/dataset/Table_1_Protein_Subdomain_Enrichment_of_NUP155_Variants_Identify_a_Novel_Predicted_Pathogenic_Hotspot_pdf/11820432

المؤلفون: Narissara Suratannon, Rogier T. A. van Wijck, Linda Broer, Laixi Xue, Joyce B. J. van Meurs, Barbara H. Barendregt, Mirjam van der Burg, Willem A. Dik, Pantipa Chatchatee, Anton W. Langerak, Sigrid M. A. Swagemakers, Jacqueline A. C. Goos, Irene M. J. Mathijssen, Virgil A. S. H. Dalm, Kanya Suphapeetiporn, Kim C. Heezen, Jose Drabwell, André G. Uitterlinden, Peter J. van der Spek, P. Martin van Hagen, The South East Asia Primary Immunodeficiencies

مصطلحات موضوعية: Immunology, Applied Immunology (incl. Antibody Engineering, Xenotransplantation and T-cell Therapies), Autoimmunity, Cellular Immunology, Humoural Immunology and Immunochemistry, Immunogenetics (incl. Genetic Immunology), Innate Immunity, Transplantation Immunology, Tumour Immunology, Immunology not elsewhere classified, Genetic Immunology, Animal Immunology, Veterinary Immunology, primary immunodeficiencies, microarray-based genotyping, SNP microarray, single nucleotide variants (SNV) calling, copy number variants (CNV) calling

Relation: https://figshare.com/articles/dataset/Table_2_Rapid_Low-Cost_Microarray-Based_Genotyping_for_Genetic_Screening_in_Primary_Immunodeficiency_xlsx/12128628

الاتاحة: https://doi.org/10.3389/fimmu.2020.00614.s002
https://figshare.com/articles/dataset/Table_2_Rapid_Low-Cost_Microarray-Based_Genotyping_for_Genetic_Screening_in_Primary_Immunodeficiency_xlsx/12128628

المؤلفون: K. P. Sem, G. R. Constantine, Rohan W. Jayasekara, Roshni R. Singaraja, C. S. Paththinige, J. R. D. K. Rajapakse, Vajira H. W. Dissanayake

المصدر: Lipids in Health and Disease
Lipids in Health and Disease, Vol 17, Iss 1, Pp 1-7 (2018)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, LDLR gene, medicine.medical_specialty, Heterozygote, Apolipoprotein B, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Population, Hypercholesterolemia, Familial hypercholesterolemia, Coronary Artery Disease, Compound heterozygosity, Single nucleotide variants (SNV), Gastroenterology, 03 medical and health sciences, symbols.namesake, Endocrinology, Internal medicine, medicine, Missense mutation, Humans, education, lcsh:RC620-627, Aged, Sri Lanka, Sanger sequencing, education.field_of_study, biology, business.industry, PCSK9, Research, Biochemistry (medical), Cholesterol, LDL, Middle Aged, medicine.disease, lcsh:Nutritional diseases. Deficiency diseases, 030104 developmental biology, Phenotype, Receptors, LDL, Cohort, Mutation, symbols, biology.protein, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d27986a02feecb06fc24208ebdef21e1
https://pubmed.ncbi.nlm.nih.gov/29720182

المؤلفون: Hernández Brito, Elisa

المساهمون: Rodríguez De Castro, Felipe Carlos B., Rodríguez Gallego, José Carlos, BU-MED, Programa de Doctorado en Investigación en Biomedicina por la Universidad de Las Palmas de Gran Canaria

مصطلحات موضوعية: 320505 Enfermedades infecciosas, 320508 Enfermedades pulmonares, 32 Ciencias médicas, Enfermedades neumocócicas invasivas (ENI), Inmunodeficiencias primarias (IDP), Neumonía adquirida en la comunidad (NAC), Neumonía neumocócica adquirida en la comunidad (NNAC), Variaciones de un solo nucleótido (SNV), Herencia monogénica, Herencia poligénica, Invasive pneumococcal diseases (IPD), Primary immunodeficiencies (IDP), Community acquired pneumonia (CAP), Pneumococcal community acquired pneumonia (PCAP), Single nucleotide variants (SNV), Monogenic inheritance, Polygenic inheritance

Relation: Tercer Ciclo; http://hdl.handle.net/10553/76693; TESIS-1871826; Sí

الاتاحة: http://hdl.handle.net/10553/76693

المؤلفون: Suratannon, N. (Narissara), van Wijck, R.T.A. (Rogier T. A.), Broer, L. (Linda), Xue, L. (Laixi), Meurs, J.B.J. (Joyce) van, Barendregt, B.H. (Barbara), Burg, M. (Mirjam) van der, Dik, W.A. (Willem), Chatchatee, P. (Pantipa), Langerak, A.W. (Anton), Swagemakers, S.M.A. (Sigrid), Goos, J.A.C. (Jacqueline), Mathijssen, I.M.J. (Irene M. J.), Dalm, V.A.S.H. (Virgil), Suphapeetiporn, K. (Kanya), Heezen, K. (Kim), Drabwell, J. (Jose), Uitterlinden, A.G. (André), Spek, P.J. (Peter) van der, van Hagen, P.M. (P. Martin)

مصطلحات الفهرس: copy number variants (CNV) calling, microarray-based genotyping, primary immunodeficiencies, single nucleotide variants (SNV) calling, SNP microarray, info:eu-repo/semantics/article

URL: http://repub.eur.nl/pub/126624