المؤلفون: Chiara Auwerx, Maarja Jõeloo, Marie C. Sadler, Nicolò Tesio, Sven Ojavee, Charlie J. Clark, Reedik Mägi, Alexandre Reymond, Zoltán Kutalik

مصطلحات موضوعية: Genetics, Structural variation, CNV, GWAS, Time-to-event analysis, Common diseases, Pleiotropy, 16p13.11, 16p11.2, Genomic disorders

العلاقة: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Rare_copy-number_variants_as_modulators_of_common_disease_susceptibility/24955993Test

الإتاحة: https://doi.org/10.6084/m9.figshare.24955993.v1Test
https://figshare.com/articles/journal_contribution/Additional_file_1_of_Rare_copy-number_variants_as_modulators_of_common_disease_susceptibility/24955993Test

المؤلفون: Peng, Gang, Zhou, Qinghua, Chai, Hongyan, Wen, Jiadi, Zhao, Hongyu, Taylor, Hugh S., Jiang, Yong-Hui, Li, Peining

المساهمون: Medical and Molecular Genetics, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Chromosome microarray analysis (CMA), Genomic disorders, Pathogenic copy number variants (pCNVs), Pregnancy loss (PL), Products of conception (POC), Spontaneous abortion (SAB)

وصف الملف: application/pdf

العلاقة: Molecular Genetics & Genomic Medicine; Peng G, Zhou Q, Chai H, et al. Estimation on risk of spontaneous abortions by genomic disorders from a meta-analysis of microarray results on large case series of pregnancy losses. Mol Genet Genomic Med. 2023;11(8):e2181. doi:10.1002/mgg3.2181; https://hdl.handle.net/1805/38602Test

الإتاحة: https://doi.org/10.1002/mgg3.2181Test
https://hdl.handle.net/1805/38602Test

المؤلفون: Gang Peng, Qinghua Zhou, Hongyan Chai, Jiadi Wen, Hongyu Zhao, Hugh S. Taylor, Yong‐Hui Jiang, Peining Li

المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 8, Pp n/a-n/a (2023)

مصطلحات موضوعية: chromosome microarray analysis (CMA), genomic disorders, pathogenic copy number variants (pCNVs), pregnancy loss (PL), products of conception (POC), spontaneous abortion (SAB), Genetics, QH426-470

العلاقة: https://doi.org/10.1002/mgg3.2181Test; https://doaj.org/toc/2324-9269Test; https://doaj.org/article/b6114eb278a54495b6af068716582854Test

الإتاحة: https://doi.org/10.1002/mgg3.2181Test
https://doaj.org/article/b6114eb278a54495b6af068716582854Test

المؤلفون: Feyza Yilmaz, Umamaheswaran Gurusamy, Trenell J. Mosley, Pille Hallast, Kwondo Kim, Yulia Mostovoy, Ryan H. Purcell, Tamim H. Shaikh, Michael E. Zwick, Pui-Yan Kwok, Charles Lee, Jennifer G. Mulle

المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-17 (2023)

مصطلحات موضوعية: 3q29, Structural variations, Genomic disorders, Schizophrenia, NAHR, Copy number variant(s), Medicine, Genetics, QH426-470

العلاقة: https://doi.org/10.1186/s13073-023-01184-5Test; https://doaj.org/toc/1756-994XTest; https://doaj.org/article/e1441505fb324218b0dd9286ccd86457Test

الإتاحة: https://doi.org/10.1186/s13073-023-01184-5Test
https://doaj.org/article/e1441505fb324218b0dd9286ccd86457Test

المؤلفون: Lisanne Vervoort, Joris R. Vermeesch

المصدر: Exploration of Medicine, Vol 4, Iss 2, Pp 166-175 (2023)

مصطلحات موضوعية: genomic disorders, low copy repeats, segmental duplications, Other systems of medicine, RZ201-999

العلاقة: https://www.explorationpub.com/Journals/em/Article/1001131Test; https://doaj.org/toc/2692-3106Test; https://doaj.org/article/48aec05f6eab491582baa9901191bdd9Test

الإتاحة: https://doi.org/10.37349/emed.2023.00131Test
https://doaj.org/article/48aec05f6eab491582baa9901191bdd9Test

المؤلفون: Yilmaz, Feyza, Gurusamy, Umamaheswaran, Mosley, Trenell J, Hallast, Pille, Kim, Kwondo, Mostovoy, Yulia, Purcell, Ryan H, Shaikh, Tamim H, Zwick, Michael E, Kwok, Pui-Yan, Lee, Charles, Mulle, Jennifer G

المصدر: Genome Medicine, vol 15, iss 1

مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Humans, Segmental Duplications, Genomic, Chromosome Mapping, Genomics, Syndrome, Haplotypes, DNA Copy Number Variations, 3q29, Structural variations, Genomic disorders, Schizophrenia, NAHR, Copy number variant(s), Clinical Sciences

وصف الملف: application/pdf

العلاقة: qt6cv3233c; https://escholarship.org/uc/item/6cv3233cTest

الإتاحة: https://escholarship.org/uc/item/6cv3233cTest

المؤلفون: Auwerx, C., Jõeloo, M., Sadler, M.C., Tesio, N., Ojavee, S., Clark, C.J., Mägi, R.

المساهمون: Estonian Biobank Research Team, Esko, T., Metspalu, A., Milani, L., Nelis, M.

المصدر: Genome medicine, vol. 16, no. 1, pp. 5

مصطلحات موضوعية: Humans, Disease Susceptibility, Genome-Wide Association Study, Body Mass Index, Genomics, 16p11.2, 16p13.11, CNV, Common diseases, GWAS, Genomic disorders, Pleiotropy, Structural variation, Time-to-event analysis

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38185688; info:eu-repo/semantics/altIdentifier/eissn/1756-994X; https://serval.unil.ch/notice/serval:BIB_91B2F5588645Test; urn:issn:1756-994X; https://serval.unil.ch/resource/serval:BIB_91B2F5588645.P001/REF.pdfTest

الإتاحة: https://doi.org/10.1186/s13073-023-01265-5Test
https://serval.unil.ch/notice/serval:BIB_91B2F5588645Test
https://serval.unil.ch/resource/serval:BIB_91B2F5588645.P001/REF.pdfTest

المؤلفون: Lisanne Vervoort, Joris Robert Vermeesch

المصدر: Genes; Volume 13; Issue 11; Pages: 2101

مصطلحات موضوعية: low copy repeats, genomic disorders, 22q11.2 deletion syndrome

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes13112101Test

الإتاحة: https://doi.org/10.3390/genes13112101Test

المؤلفون: Ilaria Rao, Laura Crisafulli, Marianna Paulis, Francesca Ficara

المصدر: Cells; Volume 11; Issue 3; Pages: 557

مصطلحات موضوعية: pluripotent stem cell, iPSC, hematopoietic stem cell, hematopoiesis, differentiation, inherited blood disorders, gene therapy, gene editing, genomic disorders, chromosome transplantation

وصف الملف: application/pdf

العلاقة: Stem Cells; https://dx.doi.org/10.3390/cells11030557Test

الإتاحة: https://doi.org/10.3390/cells11030557Test

المؤلفون: Katalin Komlósi, Attila Gyenesei, Judit Bene

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: copy number variation (CNV), rare disorders, genomic disorders, Mendelian disease, genomic rearrangement, Genetics, QH426-470

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.898059/fullTest; https://doaj.org/toc/1664-8021Test; https://doaj.org/article/049ecdf2784c4eaf8ad4ae33d1b8b719Test

الإتاحة: https://doi.org/10.3389/fgene.2022.898059Test
https://doaj.org/article/049ecdf2784c4eaf8ad4ae33d1b8b719Test