المؤلفون: Jackson, L, Weedon, MN, Green, HD, Mallabar-Rimmer, B, Harrison, JW, Wood, AR, Ruth, KS, Tyrrell, J, Wright, CF

مصطلحات موضوعية: BRCA, Family history, Inheritance, Lynch syndrome, Penetrance

وصف الملف: 102159-; Electronic-eCollection

العلاقة: https://github.com/hdg204/Rdna-nexusTest; https://www.ncbi.nlm.nih.gov/pubmed/37936660Test; EClinicalMedicine, 64; orcid:0000-0002-0260-5295 (Jackson, Leigh); orcid:0000-0002-5105-184X (Green, Harry D); ScopusID: 57208081135 (Green, Harry D); orcid:0000-0002-8314-9411 (Harrison, Jamie W); orcid:0000-0003-4966-9170 (Ruth, Kate S); ScopusID: 56661968700 (Ruth, Kate S); orcid:0000-0002-9256-6065 (Tyrrell, Jess); orcid:0000-0003-2958-5076 (Wright, Caroline F); ScopusID: 35175170800 (Wright, Caroline F); Vol. 64, article 102159; https://doi.org/10.1016/j.eclinm.2023.102159Test; MR/T00200X/1; http://hdl.handle.net/10871/134907Test; EClinicalMedicine

الإتاحة: https://doi.org/10.1016/j.eclinm.2023.102159Test
http://hdl.handle.net/10871/134907Test

المؤلفون: Kaplanis, J, Samocha, KE, Wiel, L, Zhang, Z, Arvai, KJ, Eberhardt, RY, Gallone, G, Lelieveld, SH, Martin, HC, McRae, JF, Short, PJ, Torene, RI, de Boer, E, Danecek, P, Gardner, EJ, Huang, N, Lord, J, Martincorena, I, Pfundt, R, Reijnders, MRF, Yeung, A, Yntema, HG, Deciphering Developmental Disorders Study, ., Vissers, LELM, Juusola, J, Wright, CF, Brunner, HG, Firth, HV, FitzPatrick, DR, Barrett, JC, Hurles, ME, Gilissen, C, Retterer, K

المصدر: Nature , 586 (7831) pp. 757-762. (2020)

مصطلحات موضوعية: Cohort Studies, DNA Copy Number Variations, DNA Mutational Analysis, Data Analysis, Databases, Genetic, Datasets as Topic, Delivery of Health Care, Developmental Disabilities, Europe, Female, Genetic Diseases, Inborn, Germ-Line Mutation, Haploinsufficiency, Humans, Male, Mutation, Missense, Penetrance, Perinatal Death, Sample Size

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10133185/1/Ryten_797787v3.full.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10133185Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10133185/1/Ryten_797787v3.full.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10133185Test/

المؤلفون: Caroline F. Wright, Juliet Handsaker, Elena Prigmore, David R. FitzPatrick, Jeremy F. McRae, Helen V. Firth, Diana Rajan, Tomas W Fitzgerald, Joanna Kaplanis, Matthew E. Hurles

المساهمون: Wright, CF [0000-0003-2958-5076], Apollo - University of Cambridge Repository

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-11 (2019)
Wright, C F, Prigmore, E, Rajan, D, Handsaker, J, McRae, J, Kaplanis, J, Fitzgerald, T W, FitzPatrick, D R, Firth, H V & Hurles, M E 2019, ' Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data ', Nature Communications, vol. 10, no. 1, pp. 2985 . https://doi.org/10.1038/s41467-019-11059-2Test
Nature Communications

مصطلحات موضوعية: 0301 basic medicine, Proband, Male, Parents, Developmental Disabilities, Science, General Physics and Astronomy, 02 engineering and technology, Biology, General Biochemistry, Genetics and Molecular Biology, Article, Cohort Studies, 03 medical and health sciences, Genetic variation, Exome Sequencing, Humans, Exome, Genetic Testing, Sibling, lcsh:Science, Child, Exome sequencing, Genetics, Multidisciplinary, Mosaicism, Haplotype, Neurodevelopmental disorders, Genetic Variation, High-Throughput Nucleotide Sequencing, General Chemistry, 021001 nanoscience & nanotechnology, Penetrance, 3. Good health, 030104 developmental biology, Haplotypes, Cohort, Paternal Inheritance, lcsh:Q, Female, Maternal Inheritance, 0210 nano-technology, Medical genomics

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; text/xml; application/pdf; application/zip

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c62029bcae42f485f649810af4b8bf1Test
https://doaj.org/article/9f635f6cc33c4ec7a9a378410f7206d9Test