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1دورية أكاديمية
المؤلفون: Norton, Mary E, Ziffle, Jessica Van, Lianoglou, Billie R, Hodoglugil, Ugur, Devine, W Patrick, Sparks, Teresa N
المصدر: American Journal of Obstetrics and Gynecology. 226(1)
مصطلحات موضوعية: Genetics, Clinical Research, Pediatric, Human Genome, Biotechnology, Genetic Testing, Rare Diseases, Aetiology, 4.1 Discovery and preclinical testing of markers and technologies, Detection, screening and diagnosis, 2.1 Biological and endogenous factors, Good Health and Well Being, Adult, Cohort Studies, Female, Gestational Age, High-Throughput Nucleotide Sequencing, Humans, Hydrops Fetalis, Predictive Value of Tests, Pregnancy, Prenatal Diagnosis, Exome Sequencing, exome sequencing, nonimmune hydrops, RASopathy, targeted gene panels, Paediatrics and Reproductive Medicine, Obstetrics & Reproductive Medicine
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/1qf7b9phTest
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2دورية أكاديمية
المؤلفون: Hafiz Muhammad Jafar Hussain, Meng Wang, Austin Huang, Ryan Schmidt, Xinye Qian, Paul Yang, Molly Marra, Yumei Li, Mark E. Pennesi, Rui Chen
المصدر: Genes; Volume 14; Issue 2; Pages: 447
مصطلحات موضوعية: inherited retinal diseases, whole-genome sequencing (WGS), targeted gene panels, whole-exome sequencing, deep intronic mutations
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes14020447Test
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3دورية أكاديمية
المؤلفون: Caio Robledo D’Angioli Costa Quaio, María José Rivadeneira Obando, Sandro Felix Perazzio, Aurelio Pimenta Dutra, Christine Hsiaoyun Chung, Caroline Monaco Moreira, Gil Monteiro Novo Filho, Patricia Rossi Sacramento-Bobotis, Michele Groenner Penna, Rafaela Rogerio Floriano de Souza, Vivian Pedigone Cintra, Juliana Emilia Prior Carnavalli, Rafael Alves da Silva, Monize Nakamoto Provisor Santos, Daniele Paixão, Wagner Antonio da Rosa Baratela, Caroline Olivati, Gustavo Marquezani Spolador, Maria Carolina Pintao, Alexandre Ricardo dos Santos Fornari, Matheus Burger, Rodrigo Fernandes Ramalho, Otavio Jose Eulalio Pereira, Elisa Napolitano e Ferreira, Miguel Mitne-Neto, Chong Ae Kim
المصدر: Genetics and Molecular Biology, Vol 44, Iss 4 (2021)
مصطلحات موضوعية: Exome sequencing, Next-generation sequencing, targeted gene panels, diagnostic yield, NGS panel, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572021000600102&tlng=enTest; https://doaj.org/toc/1678-4685Test
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4دورية أكاديمية
المؤلفون: Bell, S, Malka, S, Lloyd, IC, Moosajee, M
المصدر: Genes , 12 (2) , Article 131. (2021)
مصطلحات موضوعية: genetic testing, targeted gene panels, next-generation sequencing, genomic medicine, childhood/congenital cataracts, retinal dystrophies, aniridia
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10120680/1/genes-12-00131.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10120680Test/
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5دورية أكاديمية
المؤلفون: Alsu Missarova (11800813), Jaison Jain (11800816), Andrew Butler (447159), Shila Ghazanfar (3486344), Tim Stuart (3384422), Maigan Brusko (11800819), Clive Wasserfall (231273), Harry Nick (11800822), Todd Brusko (11507477), Mark Atkinson (165217), Rahul Satija (174900), John C. Marioni (11800825)
مصطلحات موضوعية: Genetics, targeted gene panels, resolve cell types, optimal gene panel, identify gene panels, manifold constructed using, seq abstract scrna, true manifold, seq datasets, unsupervised selection, spatial transcriptomics, rare cells, maximum distance, iterative approach, increasingly used, identifying markers, existing methods, best subset
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6دورية أكاديمية
المؤلفون: Alsu Missarova (11800813), Jaison Jain (11800816), Andrew Butler (447159), Shila Ghazanfar (3486344), Tim Stuart (3384422), Maigan Brusko (11800819), Clive Wasserfall (231273), Harry Nick (11800822), Todd Brusko (11507477), Mark Atkinson (165217), Rahul Satija (174900), John C. Marioni (11800825)
مصطلحات موضوعية: Genetics, targeted gene panels, resolve cell types, optimal gene panel, identify gene panels, manifold constructed using, seq abstract scrna, true manifold, seq datasets, unsupervised selection, spatial transcriptomics, rare cells, maximum distance, iterative approach, increasingly used, identifying markers, existing methods, best subset
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7دورية أكاديمية
المؤلفون: Alsu Missarova (11800813), Jaison Jain (11800816), Andrew Butler (447159), Shila Ghazanfar (3486344), Tim Stuart (3384422), Maigan Brusko (11800819), Clive Wasserfall (231273), Harry Nick (11800822), Todd Brusko (11507477), Mark Atkinson (165217), Rahul Satija (174900), John C. Marioni (11800825)
مصطلحات موضوعية: Genetics, targeted gene panels, resolve cell types, optimal gene panel, identify gene panels, manifold constructed using, seq abstract scrna, true manifold, seq datasets, unsupervised selection, spatial transcriptomics, rare cells, maximum distance, iterative approach, increasingly used, identifying markers, existing methods, best subset
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8دورية أكاديمية
المؤلفون: Alsu Missarova (11800813), Jaison Jain (11800816), Andrew Butler (447159), Shila Ghazanfar (3486344), Tim Stuart (3384422), Maigan Brusko (11800819), Clive Wasserfall (231273), Harry Nick (11800822), Todd Brusko (11507477), Mark Atkinson (165217), Rahul Satija (174900), John C. Marioni (11800825)
مصطلحات موضوعية: Genetics, targeted gene panels, resolve cell types, optimal gene panel, identify gene panels, manifold constructed using, seq abstract scrna, true manifold, seq datasets, unsupervised selection, spatial transcriptomics, rare cells, maximum distance, iterative approach, increasingly used, identifying markers, existing methods, best subset
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9دورية أكاديمية
المؤلفون: Suzannah Bell, Samantha Malka, Ian Christopher Lloyd, Mariya Moosajee
المصدر: Genes; Volume 12; Issue 2; Pages: 131
مصطلحات موضوعية: genetic testing, targeted gene panels, next-generation sequencing, genomic medicine, childhood/congenital cataracts, retinal dystrophies, aniridia
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12020131Test
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10دورية أكاديمية
المؤلفون: Jackson, D, Malka, S, Harding, P, Palma, J, Dunbar, H, Moosajee, M
المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics (2020) (In press).
مصطلحات موضوعية: developmental eye disorders, genetic eye disease, next generation sequencing, targeted gene panels, whole genome sequencing
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10109011/1/ajmg.c.31837.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10109011Test/