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1دورية أكاديمية
المؤلفون: Yongxing Zhou, Raman Sood, Qun Wang, Blake Carrington, Morgan Park, Alice C. Young, Daniel Birnbaum, Zhao Liu, Tetsuo Ashizawa, James C. Mullikin, Mohamad Z. Koubeissi, Paul Liu
المصدر: Epilepsia Open, Vol 6, Iss 1, Pp 102-111 (2021)
مصطلحات موضوعية: epilepsy, FCMTE, myoclonus, SAMD12, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2470-9239
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2دورية أكاديمية
المؤلفون: Sean Conlan, Morgan Park, Clayton Deming, Pamela J. Thomas, Alice C. Young, Holly Coleman, Christina Sison, Rebecca A. Weingarten, Anna F. Lau, John P. Dekker, Tara N. Palmore, Karen M. Frank, Julia A. Segre
المصدر: mBio, Vol 7, Iss 3 (2016)
مصطلحات موضوعية: Microbiology, QR1-502
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2150-7511
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3
المؤلفون: Sergey Nurk, Sergey Koren, Arang Rhie, Mikko Rautiainen, Andrey V. Bzikadze, Alla Mikheenko, Mitchell R. Vollger, Nicolas Altemose, Lev Uralsky, Ariel Gershman, Sergey Aganezov, Savannah J. Hoyt, Mark Diekhans, Glennis A. Logsdon, Michael Alonge, Stylianos E. Antonarakis, Matthew Borchers, Gerard G. Bouffard, Shelise Y. Brooks, Gina V. Caldas, Nae-Chyun Chen, Haoyu Cheng, Chen-Shan Chin, William Chow, Leonardo G. de Lima, Philip C. Dishuck, Richard Durbin, Tatiana Dvorkina, Ian T. Fiddes, Giulio Formenti, Robert S. Fulton, Arkarachai Fungtammasan, Erik Garrison, Patrick G. S. Grady, Tina A. Graves-Lindsay, Ira M. Hall, Nancy F. Hansen, Gabrielle A. Hartley, Marina Haukness, Kerstin Howe, Michael W. Hunkapiller, Chirag Jain, Miten Jain, Erich D. Jarvis, Peter Kerpedjiev, Melanie Kirsche, Mikhail Kolmogorov, Jonas Korlach, Milinn Kremitzki, Heng Li, Valerie V. Maduro, Tobias Marschall, Ann M. McCartney, Jennifer McDaniel, Danny E. Miller, James C. Mullikin, Eugene W. Myers, Nathan D. Olson, Benedict Paten, Paul Peluso, Pavel A. Pevzner, David Porubsky, Tamara Potapova, Evgeny I. Rogaev, Jeffrey A. Rosenfeld, Steven L. Salzberg, Valerie A. Schneider, Fritz J. Sedlazeck, Kishwar Shafin, Colin J. Shew, Alaina Shumate, Ying Sims, Arian F. A. Smit, Daniela C. Soto, Ivan Sović, Jessica M. Storer, Aaron Streets, Beth A. Sullivan, Françoise Thibaud-Nissen, James Torrance, Justin Wagner, Brian P. Walenz, Aaron Wenger, Jonathan M. D. Wood, Chunlin Xiao, Stephanie M. Yan, Alice C. Young, Samantha Zarate, Urvashi Surti, Rajiv C. McCoy, Megan Y. Dennis, Ivan A. Alexandrov, Jennifer L. Gerton, Rachel J. O’Neill, Winston Timp, Justin M. Zook, Michael C. Schatz, Evan E. Eichler, Karen H. Miga, Adam M. Phillippy
المساهمون: Nurk, Sergey [0000-0003-1301-5749], Koren, Sergey [0000-0002-1472-8962], Rhie, Arang [0000-0002-9809-8127], Rautiainen, Mikko [0000-0003-2971-267X], Bzikadze, Andrey V [0000-0002-7928-7950], Vollger, Mitchell R [0000-0002-8651-1615], Altemose, Nicolas [0000-0002-7231-6026], Uralsky, Lev [0000-0002-5565-7961], Gershman, Ariel [0000-0001-8899-8781], Aganezov, Sergey [0000-0003-2458-8323], Hoyt, Savannah J [0000-0001-7804-3236], Diekhans, Mark [0000-0002-0430-0989], Logsdon, Glennis A [0000-0003-2396-0656], Alonge, Michael [0000-0002-3692-1819], Antonarakis, Stylianos E [0000-0001-8907-5823], Borchers, Matthew [0000-0001-5903-3489], Bouffard, Gerard G [0000-0001-8744-6440], Chen, Nae-Chyun [0000-0002-4140-4568], Cheng, Haoyu [0000-0002-9209-5793], Chin, Chen-Shan [0000-0003-4394-2455], Chow, William [0000-0002-9056-201X], de Lima, Leonardo G [0000-0001-6340-6065], Dishuck, Philip C [0000-0003-2223-9787], Durbin, Richard [0000-0002-9130-1006], Fiddes, Ian T [0000-0002-1580-7443], Formenti, Giulio [0000-0002-7554-5991], Fungtammasan, Arkarachai [0000-0003-2398-0358], Garrison, Erik [0000-0003-3821-631X], Grady, Patrick GS [0000-0003-0180-7810], Graves-Lindsay, Tina A [0000-0002-0409-891X], Hall, Ira M [0000-0003-4442-6655], Hansen, Nancy F [0000-0002-0950-0699], Haukness, Marina [0000-0001-9991-8089], Howe, Kerstin [0000-0003-2237-513X], Jain, Miten [0000-0002-4571-3982], Jarvis, Erich D [0000-0001-8931-5049], Kirsche, Melanie [0000-0002-6631-4761], Kolmogorov, Mikhail [0000-0002-5489-9045], Korlach, Jonas [0000-0003-3047-4250], Kremitzki, Milinn [0000-0001-7980-3153], Li, Heng [0000-0003-4874-2874], Maduro, Valerie V [0000-0001-8250-9844], Marschall, Tobias [0000-0002-9376-1030], McDaniel, Jennifer [0000-0003-1987-0914], Miller, Danny E [0000-0001-6096-8601], Mullikin, James C [0000-0003-0825-3750], Myers, Eugene W [0000-0002-6580-7839], Olson, Nathan D [0000-0003-2585-3037], Paten, Benedict [0000-0001-8863-3539], Pevzner, Pavel A [0000-0002-0418-165X], Porubsky, David [0000-0001-8414-8966], Potapova, Tamara [0000-0003-2761-1795], Rosenfeld, Jeffrey A [0000-0002-8750-2841], Salzberg, Steven L [0000-0002-8859-7432], Sedlazeck, Fritz J [0000-0001-6040-2691], Shafin, Kishwar [0000-0001-5252-3434], Shumate, Alaina [0000-0002-4450-1857], Smit, Arian FA [0000-0003-2088-3165], Soto, Daniela C [0000-0002-6292-655X], Sović, Ivan [0000-0002-5900-4319], Storer, Jessica M [0000-0002-9619-5265], Streets, Aaron [0000-0002-3909-8389], Sullivan, Beth A [0000-0001-5216-4603], Thibaud-Nissen, Françoise [0000-0003-4957-7807], Torrance, James [0000-0002-6117-8190], Walenz, Brian P [0000-0001-8431-1428], Wenger, Aaron [0000-0003-1183-0432], Wood, Jonathan MD [0000-0002-7545-2162], Xiao, Chunlin [0000-0001-8702-4889], Yan, Stephanie M [0000-0002-6880-465X], Young, Alice C [0000-0003-0549-9261], Zarate, Samantha [0000-0001-5570-2059], McCoy, Rajiv C [0000-0003-0615-146X], Dennis, Megan Y [0000-0002-8502-5420], Alexandrov, Ivan A [0000-0003-4342-2003], Gerton, Jennifer L [0000-0003-0743-3637], O'Neill, Rachel J [0000-0002-1525-6821], Timp, Winston [0000-0003-2083-6027], Zook, Justin M [0000-0003-2309-8402], Schatz, Michael C [0000-0002-4118-4446], Eichler, Evan E [0000-0002-8246-4014], Miga, Karen H [0000-0001-9709-4565], Phillippy, Adam M [0000-0003-2983-8934], Apollo - University of Cambridge Repository
المصدر: Science (New York, N.Y.), vol 376, iss 6588
مصطلحات موضوعية: Chromosomes, Artificial, Bacterial, Genome, Multidisciplinary, General Science & Technology, Genome, Human, 1.1 Normal biological development and functioning, Human Genome, Bacterial, DNA, Sequence Analysis, DNA, Chromosomes, Cell Line, Underpinning research, Reference Values, Artificial, Human Genome Project, Genetics, Chromosomes, Human, Humans, Generic health relevance, Sequence Analysis, Human
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57a90349d97678f40cdb370a46304d2d
https://doi.org/10.1126/science.abj6987 -
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المؤلفون: Blake Carrington, Yongxing Zhou, Paul P. Liu, Zhao Liu, Morgan Park, Tetsuo Ashizawa, Alice C. Young, Daniel P. Birnbaum, Raman Sood, Qun Wang, Mohamad Z. Koubeissi, James C. Mullikin
المصدر: Epilepsia Open, Vol 6, Iss 1, Pp 102-111 (2021)
مصطلحات موضوعية: Genetics, Mutation, medicine.diagnostic_test, Postural tremor, Biology, Electroencephalography, medicine.disease_cause, medicine.disease, myoclonus, lcsh:RC346-429, FCMTE, Epilepsy, Neurology, medicine, epilepsy, Neurology (clinical), Age of onset, medicine.symptom, Trinucleotide repeat expansion, Myoclonus, SAMD12, lcsh:Neurology. Diseases of the nervous system, Exome sequencing
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المؤلفون: Sergey Nurk, Sergey Koren, Arang Rhie, Mikko Rautiainen, Andrey V. Bzikadze, Alla Mikheenko, Mitchell R. Vollger, Nicolas Altemose, Lev Uralsky, Ariel Gershman, Sergey Aganezov, Savannah J. Hoyt, Mark Diekhans, Glennis A. Logsdon, Michael Alonge, Stylianos E. Antonarakis, Matthew Borchers, Gerard G. Bouffard, Shelise Y. Brooks, Gina V. Caldas, Haoyu Cheng, Chen-Shan Chin, William Chow, Leonardo G. de Lima, Philip C. Dishuck, Richard Durbin, Tatiana Dvorkina, Ian T. Fiddes, Giulio Formenti, Robert S. Fulton, Arkarachai Fungtammasan, Erik Garrison, Patrick G.S. Grady, Tina A. Graves-Lindsay, Ira M. Hall, Nancy F. Hansen, Gabrielle A. Hartley, Marina Haukness, Kerstin Howe, Michael W. Hunkapiller, Chirag Jain, Miten Jain, Erich D. Jarvis, Peter Kerpedjiev, Melanie Kirsche, Mikhail Kolmogorov, Jonas Korlach, Milinn Kremitzki, Heng Li, Valerie V. Maduro, Tobias Marschall, Ann M. McCartney, Jennifer McDaniel, Danny E. Miller, James C. Mullikin, Eugene W. Myers, Nathan D. Olson, Benedict Paten, Paul Peluso, Pavel A. Pevzner, David Porubsky, Tamara Potapova, Evgeny I. Rogaev, Jeffrey A. Rosenfeld, Steven L. Salzberg, Valerie A. Schneider, Fritz J. Sedlazeck, Kishwar Shafin, Colin J. Shew, Alaina Shumate, Yumi Sims, Arian F. A. Smit, Daniela C. Soto, Ivan Sović, Jessica M. Storer, Aaron Streets, Beth A. Sullivan, Françoise Thibaud-Nissen, James Torrance, Justin Wagner, Brian P. Walenz, Aaron Wenger, Jonathan M. D. Wood, Chunlin Xiao, Stephanie M. Yan, Alice C. Young, Samantha Zarate, Urvashi Surti, Rajiv C. McCoy, Megan Y. Dennis, Ivan A. Alexandrov, Jennifer L. Gerton, Rachel J. O’Neill, Winston Timp, Justin M. Zook, Michael C. Schatz, Evan E. Eichler, Karen H. Miga, Adam M. Phillippy
مصطلحات موضوعية: Complete sequence, Heterochromatin, Genomics, Human genome, Preprint, Computational biology, Biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a01c9a160fe87e3a4ab72701aa8a9141
https://doi.org/10.1101/2021.05.26.445798 -
6دورية أكاديمية
المؤلفون: Amy R Bentley, Guanjie Chen, Daniel Shriner, Ayo P Doumatey, Jie Zhou, Hanxia Huang, James C Mullikin, Robert W Blakesley, Nancy F Hansen, Gerard G Bouffard, Praveen F Cherukuri, Baishali Maskeri, Alice C Young, Adebowale Adeyemo, Charles N Rotimi
المصدر: PLoS Genetics, Vol 10, Iss 3, p e1004190 (2014)
وصف الملف: electronic resource
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المؤلفون: Sirintorn Stantripop, Sean Black, Ricardo D’Oliveira Albanus, S. L. Ho, John P. Didion, Beatrice B. Barnabas, Francis S. Collins, Brian P. Schmidt, Peter Orchard, Quino Maduro, Casandra Montemayor, Christina Sison, Karen L. Mohlke, Hannah J Perrin, K. Alaine Broadaway, Alice C. Young, Juyun Kim, Morgan Park, Laura J. Scott, Swarooparani Vadlamudi, Erin G. Schuetz, Karen Schandler, Narisu Narisu, James W. Thomas, Richelle Legaspi, Shelise Brooks, Gerard G. Bouffard, Joel Han, Federico Innocenti, Nancy Riebow, Vivek Rai, Lyudmila Dekhtyar, James C. Mullikin, Stephen C. J. Parker, Michael R. Erdos, Holly Coleman, Tingfen Yan, Catherine A. Masiello, Lori L. Bonnycastle, Jacqueline R. Idol, Amarjit S. Chaudhry, Jennifer C. McDowell, Kevin W Currin, Meghana Vemulapalli, Pamela J. Thomas, Amy S. Etheridge
المصدر: Am J Hum Genet
مصطلحات موضوعية: Amino Acid Motifs, Quantitative Trait Loci, Locus (genetics), ATAC-seq, Genome-wide association study, Biology, Quantitative trait locus, Article, 03 medical and health sciences, 0302 clinical medicine, Genetics, Humans, Promoter Regions, Genetic, Genetics (clinical), 030304 developmental biology, Epigenomics, 0303 health sciences, Binding Sites, Genetic Variation, Chromatin Assembly and Disassembly, Chromatin, Enhancer Elements, Genetic, Liver, Expression quantitative trait loci, Liver function, Transcriptome, 030217 neurology & neurosurgery, Genome-Wide Association Study, Protein Binding, Transcription Factors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bebdd55fe1d80ed53db25b6e571c5a0
https://pubmed.ncbi.nlm.nih.gov/34038741 -
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المؤلفون: Yongxing, Zhou, Raman, Sood, Qun, Wang, Blake, Carrington, Morgan, Park, Alice C, Young, Daniel, Birnbaum, Zhao, Liu, Tetsuo, Ashizawa, James C, Mullikin, Mohamad Z, Koubeissi, Paul, Liu
المصدر: Epilepsia Open
مصطلحات موضوعية: Adult, Male, China, DNA Repeat Expansion, Electroencephalography, Epilepsies, Myoclonic, Nerve Tissue Proteins, Genomics, Middle Aged, Magnetic Resonance Imaging, Introns, myoclonus, Pedigree, FCMTE, Carbamazepine, Phenotype, Tremor, Exome Sequencing, Full‐length Original Research, Humans, epilepsy, Anticonvulsants, Female, Epileptic Syndromes, SAMD12
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المؤلفون: Laura Elnitski, Gennady Margolin, Alice C. Young, Hanna M. Petrykowska, Nader Jameel, Daphne W. Bell
المصدر: The Journal of Molecular Diagnostics. 18:283-298
مصطلحات موضوعية: 0301 basic medicine, Sequence analysis, In silico, Kruppel-Like Transcription Factors, Locus (genetics), Biology, Pathology and Forensic Medicine, 03 medical and health sciences, chemistry.chemical_compound, Neoplasms, Biomarkers, Tumor, Humans, Sulfites, Computer Simulation, Genetics, Reproducibility of Results, Regular Article, DNA, Neoplasm, DNA Methylation, Endometrial Neoplasms, Bisulfite, 030104 developmental biology, ROC Curve, CpG site, chemistry, DNA methylation, Cancer research, Molecular Medicine, Biomarker (medicine), CpG Islands, Female, Nucleic Acid Amplification Techniques, DNA
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المؤلفون: Carsten G. Bönnemann, Francis J. McMahon, Quino Maduro, Alan T. Remaley, Brian P. Brooks, Sirintorn Stantripop, Jennifer C. McDowell, Kendall L. Umstead, Gerard G. Bouffard, Erin Turbitt, Catherine A. Masiello, Karen Schandler, Jeffrey Baron, Jennifer J. Johnston, Beatrice B. Barnabas, Richelle Legaspi, James W. Thomas, Holly Coleman, Eileen Pelayo, Barbara B. Biesecker, D. Nadine Dogbe, Ilias Alevizos, Joel Moss, W. Marston Linehan, Helen C. Su, Casandra Montemayor, Brian Schmidt, Alice C. Young, Morgan Park, Meghana Vemulapalli, Richard M. Siegel, Pamela J. Thomas, Chanthra Scharer, Youn Hee Jee, Deborah Nielsen, Carlos A. Zarate, Christina Sison, Leslie G. Biesecker, Alexis R Heidlebaugh, Sandra Donkervoort, Nancy Riebow, Shelise Brooks, James C. Mullikin, Teri A. Manolio, Julie C. Sapp, Xiaobin Guan, Ane Miren Sagardia, S. L. Ho, Kate Driscoll, Joel Han, Lyudmila Dekhtyar
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, media_common.quotation_subject, Genetic counseling, Specialty, Genetic Counseling, Pilot Projects, 030105 genetics & heredity, Article, 03 medical and health sciences, 0302 clinical medicine, Health care, Genetics, medicine, Humans, Exome, Genetics (clinical), Exome sequencing, media_common, Protocol (science), Receipt, Genetics & Heredity, Incidental Findings, business.industry, Psychologic distress, Genomics, Middle Aged, Surprise, 030220 oncology & carcinogenesis, Family medicine, Female, business
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f8f30234ebb7d1b8ff21c42057bf2c8
https://europepmc.org/articles/PMC6128311/