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1
المؤلفون: David Goldstein, Melissa Stosic, Odelia Nahum, Louise Bier, Vimla S. Aggarwal, Colin D. Malone, Erica Spiegel, Brynn Levy, Jessica L. Giordano, Caroline Mebane, Ronald J. Wapner, Karen Wou, Kelly Brennan, Russell Miller, Nicholas Stong, Slavé Petrovski, Xiaolin Zhu, Quanli Wang, Sitharthan Kamalakaran, Kwame Anyane-Yeboa, Zhong Ren, Vaidehi Jobanputra
المصدر: The Lancet. 393:758-767
مصطلحات موضوعية: Male, medicine.medical_specialty, DNA Copy Number Variations, Genetic Carrier Screening, Abnormal Karyotype, Aneuploidy, Chorionic villus sampling, 030204 cardiovascular system & hematology, Ultrasonography, Prenatal, Fetal Development, 03 medical and health sciences, Fetus, 0302 clinical medicine, Pregnancy, Exome Sequencing, medicine, Humans, Abnormalities, Multiple, Prospective Studies, 030212 general & internal medicine, Copy-number variation, Prospective cohort study, Exome sequencing, medicine.diagnostic_test, Obstetrics, business.industry, General Medicine, medicine.disease, Chorionic Villi Sampling, Cohort, Amniocentesis, Female, business
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2
المؤلفون: Hila Milo-Rasouly, Sophia R. Cameron-Christie, Vimla Aggarwal, Carolina Haefliger, Byum Hee Kil, Adam Platt, Brett Copeland, Andrew S. Bomback, Wan Yee Lam, Natalie S Uy, Simone Sanna-Cherchi, Junying Zhang, Rachel Reingold, Zhong Ren, Stacy Piva, Adele Mitrotti, David J. Cohen, Debanjana Chatterjee, Ruth March, Emily E. Groopman, Maddalena Marasa, Drew Bradbury, Sumit Mohan, Michael DiVecchia, David Goldstein, Shumyle Alam, Colin D. Malone, Jordan G. Nestor, Jan Fleckner, Chunhua Weng, Gerald B. Appel, Yifu Li, Priya Krithivasan, Russell J. Crew, Neha Dagaonkar, Olivia Balderes, Karla Mehl, David Fasel, Holly J. Snyder, Maya K. Rao, Joshua Bridgers, Geoffrey K. Dube, Krzysztof Kiryluk, Pietro A. Canetta, Bengt Fellström, Ali G. Gharavi, Jai Radhakrishnan, Wooin Ahn, Caroline Mebane, Slavé Petrovski, Xueru Mu, Sitharthan Kamalakaran
المصدر: New England Journal of Medicine. 380:142-151
مصطلحات موضوعية: Adult, Male, Nephrology, medicine.medical_specialty, Diagnostic methods, Computational biology, 030204 cardiovascular system & hematology, Article, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Exome Sequencing, Humans, Medicine, Genetic Predisposition to Disease, Exome, Genetic Testing, 030212 general & internal medicine, Renal Insufficiency, Chronic, Exome sequencing, Aged, business.industry, Extramural, Genetic Variation, Sequence Analysis, DNA, General Medicine, Middle Aged, medicine.disease, Mutation, Medical genetics, business, Glomerular Filtration Rate, Kidney disease
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3
المؤلفون: Colin D. Malone, Donald C. Rio, Remi-Xavier Coux, Felipe Karam Teixeira, Martyna Okuniewska, Ruth Lehmann
المصدر: Nature
مصطلحات موضوعية: Male, 0301 basic medicine, Transposable element, endocrine system, Small RNA, Retroelements, Chromosomal Proteins, Non-Histone, Piwi-interacting RNA, Retrotransposon, Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Animals, Drosophila Proteins, RNA, Messenger, RNA, Small Interfering, Multidisciplinary, urogenital system, Ovary, Alternative splicing, Nuclear Proteins, RNA-Binding Proteins, Chromatin, Cell biology, Alternative Splicing, Drosophila melanogaster, Germ Cells, 030104 developmental biology, Chromobox Protein Homolog 5, Argonaute Proteins, RNA splicing, DNA Transposable Elements, Female, Precursor mRNA, 030217 neurology & neurosurgery
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4دورية أكاديمية
المؤلفون: Felipe Karam Teixeira, Martyna Okuniewska, Colin D. Malone, Rémi-Xavier Coux, Donald C. Rio, Ruth Lehmann
المصدر: Nature, Nature. 552(7684):268-272
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5
المؤلفون: Manu Hegde, Catherine A. Schevon, Alison M. Pack, Annapurna Poduri, Gerald A. Grant, Mohamad A. Mikati, Edward Yang, Werner Doyle, Patricia Dugan, Katherine M. Keever, Danielle McBrian, Peter B. Crino, Hart G.W. Lidov, David Zagzag, Senthilmurugan Ramalingam, Dinesh Rathakrishnan, Jurriaan M. Peters, Erin L. Heinzen, Sameer A. Sheth, Peter Canoll, Catherine Shain, Ann M. Bergin, Brenda E. Porter, Colin D. Malone, Andrew S. Allen, Jorge Samanamud, Joseph R. Madsen, Christopher M. LaCoursiere, Nicole G. Griffin, Guy M. McKhann, Cigdem I. Akman, Evan H. Baugh, Carrie R. Muh, Melodie R. Winawer
المصدر: Annals of neurology, vol 83, iss 6
مصطلحات موضوعية: 0301 basic medicine, Nonsynonymous substitution, Male, Candidate gene, Pathology, Drug Resistant Epilepsy, Somatic cell, Neocortex, Neurodegenerative, Epilepsy, Phosphatidylinositol 3-Kinases, 0302 clinical medicine, 2.1 Biological and endogenous factors, Epilepsy surgery, Exome, Aetiology, Child, Neurons, TOR Serine-Threonine Kinases, Brain, Malformations of Cortical Development, Neurology, Neurological, Female, Biotechnology, medicine.medical_specialty, Monosaccharide Transport Proteins, Adolescent, Clinical Sciences, Biology, Article, 03 medical and health sciences, Young Adult, Germline mutation, Clinical Research, medicine, Genetics, Humans, Neurology & Neurosurgery, Prevention, Human Genome, Neurosciences, Cortical dysplasia, medicine.disease, Brain Disorders, 030104 developmental biology, Mutation, Neurology (clinical), 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::150e8e295ba763aa6dc47b2c75cfef4d
https://escholarship.org/uc/item/58k5h2db -
6
المؤلفون: Anna Jankowska, Adam P. Rosebrock, Felix Muerdter, Gregory J. Hannon, Barbara T. Wakimoto, Delphine Fagegaltier, Colin D. Malone, Yang Yu, Kaja A. Wasik, Vasily V. Vagin, Yicheng Luo, Emily J. Harrison
المصدر: RNA. 19:1064-1077
مصطلحات موضوعية: Male, Transposable element, endocrine system, Molecular Sequence Data, Piwi-interacting RNA, Genes, Insect, Biology, Genome, Animals, Genetically Modified, Catalytic Domain, Animals, Drosophila Proteins, RasiRNA, Amino Acid Sequence, RNA, Small Interfering, Molecular Biology, Gene, Phospholipids, Genetics, urogenital system, Articles, Argonaute, biology.organism_classification, Drosophila melanogaster, Argonaute Proteins, Glycerol-3-Phosphate O-Acyltransferase, Mutation, DNA Transposable Elements, Female, Biogenesis, Signal Transduction
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a3779d6d5b4f284cac2bf743f336a9c
https://doi.org/10.1261/rna.039669.113 -
7
المؤلفون: Benjamin Czech, Ruth Lehmann, Gregory J. Hannon, Jonathan B. Preall, Carlos G. Sanchez, Colin D. Malone, Felipe Karam Teixeira, Andrea L. Zamparini, Jessica R. K. Seifert
مصطلحات موضوعية: 0301 basic medicine, Cell Survival, Cellular differentiation, Ribosome biogenesis, Genes, Insect, Biology, Article, Transcriptome, 03 medical and health sciences, RNA interference, Genetics, Animals, Drosophila Proteins, Peptide Chain Initiation, Translational, Regulation of gene expression, Organelle Biogenesis, Endosomal Sorting Complexes Required for Transport, Stem Cells, Cell Differentiation, Cell Biology, Hypertrophy, Cell biology, 030104 developmental biology, Drosophila melanogaster, Eukaryotic Initiation Factor-4E, Germ Cells, Phenotype, Gene Expression Regulation, Gene Knockdown Techniques, Protein Biosynthesis, Molecular Medicine, RNA Interference, Organelle biogenesis, Stem cell, Ribosomes, Cytokinesis, Cell Nucleolus, Protein Binding
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5ef8f95cd36bd6fc0eb9de34825e0ea
https://europepmc.org/articles/PMC4744108/ -
8
المؤلفون: Prashanth Rangan, Patrick S. Hayes, Colin D. Malone, Sam P. Newbold, Caryn Navarro, Gregory J. Hannon, Ruth Lehmann, Ravi Sachidanandam
المصدر: Current Biology. 21(16):1373-1379
مصطلحات موضوعية: endocrine system, Transcription, Genetic, Heterochromatin, Somatic cell, Cellular differentiation, Molecular Sequence Data, Piwi-interacting RNA, Article, General Biochemistry, Genetics and Molecular Biology, Germline, 03 medical and health sciences, 0302 clinical medicine, Animals, RasiRNA, RNA, Small Interfering, 030304 developmental biology, Genetics, 0303 health sciences, biology, Agricultural and Biological Sciences(all), urogenital system, Biochemistry, Genetics and Molecular Biology(all), Chromatin Assembly and Disassembly, biology.organism_classification, Drosophila melanogaster, Histone, Gene Expression Regulation, DNA Transposable Elements, biology.protein, General Agricultural and Biological Sciences, 030217 neurology & neurosurgery
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9
المؤلفون: Lukas E. Dow, Claudio Scuoppo, Kenneth R. Shroyer, Scott W. Lowe, Cornelius Miething, Ross A. Dickins, Matthew Camiolo, Prem K. Premsrirut, Colin D. Malone, Gregory J. Hannon, Johannes Zuber, Raffaella Sordella, Sang Yong Kim, Scott C. Kogan
المصدر: Cell. 145(1):145-158
مصطلحات موضوعية: Lung Neoplasms, Mice, Transgenic, Adenocarcinoma, Biology, Precursor T-Cell Lymphoblastic Leukemia-Lymphoma, General Biochemistry, Genetics and Molecular Biology, Article, Small hairpin RNA, Mice, RNA interference, microRNA, Gene Knockdown Techniques, Animals, Gene silencing, RNA Processing, Post-Transcriptional, RNA, Small Interfering, Gene, Embryonic Stem Cells, Gene knockdown, Biochemistry, Genetics and Molecular Biology(all), Wnt signaling pathway, Molecular biology, Cell biology, Wnt Proteins, MicroRNAs, RNA Interference, Signal Transduction
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10
المؤلفون: Andrea L. Zamparini, Gregory J. Hannon, Marie Y. Davis, Colin D. Malone, Eric Vieira, Ruth Lehmann, Ravi Sachidanandam, Jiri Zavadil
المصدر: Development (Cambridge, England)
مصطلحات موضوعية: Transposable element, Germline stem cell, Male, endocrine system, Piwi, Somatic cell, Piwi-interacting RNA, Germline, Animals, Genetically Modified, 03 medical and health sciences, 0302 clinical medicine, Gene silencing, Animals, Drosophila Proteins, Tudor, Gene Silencing, Aubergine, RNA Processing, Post-Transcriptional, RNA, Small Interfering, Gonads, Molecular Biology, Transposon, Research Articles, 030304 developmental biology, Genetics, Soma, 0303 health sciences, biology, urogenital system, Gene Expression Profiling, Ovary, Gene Expression Regulation, Developmental, Argonaute, biology.organism_classification, Microarray Analysis, Protein Structure, Tertiary, Drosophila melanogaster, Germ Cells, piRNAs, Organ Specificity, Drosophila, Female, 030217 neurology & neurosurgery, Drosophila Protein, Developmental Biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a083200f921f6269f4e5ab2570e37061
http://europepmc.org/articles/PMC3160098