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1دورية أكاديمية
المؤلفون: Rochelle Payne Ondracek, Jianhong Chen, Beth Marosy, Sirinapa Szewczyk, Leonard Medico, Amrutha Sherly Mohan, Priya Nair, Rachel Pratt, Janise M. Roh, Thaer Khoury, John Carpten, Lawrence H. Kushi, Julie R. Palmer, Kim Doheny, Warren Davis, Michael J. Higgins, Song Yao, Christine B. Ambrosone
المصدر: BMC Genomics, Vol 23, Iss 1, Pp 1-10 (2022)
مصطلحات موضوعية: FFPE, Population study, Nucleic acids extraction, Breast tumor, Biotechnology, TP248.13-248.65, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1471-2164
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المؤلفون: Liewei Wang, Richard M. Weinshilboum, Lothar Häberle, Daniel J. Schaid, Alvaro N.A. Monteiro, Wolfgang Janni, Julie M. Cunningham, Brooke L. Fridley, Liang Li, Erin E. Carlson, Gregory D. Jenkins, Kim Doheny, Jane Romm, Jess Shen, Ebony Madden, Diether Lambrechts, Hanna Huebner, Matthias Ruebner, Matthias W. Beckmann, Georg Heinrich, Tanja N. Fehm, Hans Tesch, Andreas Schneeweiss, Andre Reis, Arif B. Ekici, Alexander Hein, Brigitte Rack, Paulo C. Lyra, James N. Ingle, Steve Scully, Duan Liu, Peter A. Fasching
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02d86c0e3d36ab61a45125555474cbea
https://doi.org/10.1158/1078-0432.c.6531272.v1 -
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المؤلفون: Liewei Wang, Richard M. Weinshilboum, Lothar Häberle, Daniel J. Schaid, Alvaro N.A. Monteiro, Wolfgang Janni, Julie M. Cunningham, Brooke L. Fridley, Liang Li, Erin E. Carlson, Gregory D. Jenkins, Kim Doheny, Jane Romm, Jess Shen, Ebony Madden, Diether Lambrechts, Hanna Huebner, Matthias Ruebner, Matthias W. Beckmann, Georg Heinrich, Tanja N. Fehm, Hans Tesch, Andreas Schneeweiss, Andre Reis, Arif B. Ekici, Alexander Hein, Brigitte Rack, Paulo C. Lyra, James N. Ingle, Steve Scully, Duan Liu, Peter A. Fasching
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81ff3fe3795208876cf4648756ad95a8
https://doi.org/10.1158/1078-0432.22483907.v1 -
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المؤلفون: Liewei Wang, Richard M. Weinshilboum, Lothar Häberle, Daniel J. Schaid, Alvaro N.A. Monteiro, Wolfgang Janni, Julie M. Cunningham, Brooke L. Fridley, Liang Li, Erin E. Carlson, Gregory D. Jenkins, Kim Doheny, Jane Romm, Jess Shen, Ebony Madden, Diether Lambrechts, Hanna Huebner, Matthias Ruebner, Matthias W. Beckmann, Georg Heinrich, Tanja N. Fehm, Hans Tesch, Andreas Schneeweiss, Andre Reis, Arif B. Ekici, Alexander Hein, Brigitte Rack, Paulo C. Lyra, James N. Ingle, Steve Scully, Duan Liu, Peter A. Fasching
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27c9761c553b03bcc6db9dd82a7b1fef
https://doi.org/10.1158/1078-0432.22483904.v1 -
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المؤلفون: Eliete Rodrigues, Sean Griffith, Renan Martin, Corina Antonescu, Jennifer Posey, Zeynep Coban-Akdemir, Shalini Jhangiani, Kim Doheny, James R. Lupski, David Valle, Michael Bamshad, Ada Hamosh, Assaf Sheffer, Jessica Chong, Yaron Einhorn, Miro Cupak, Nara Sobreira
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4c652365b685543fb95482299768ceff
https://doi.org/10.22541/au.163649734.42542748/v1 -
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المؤلفون: Andrea H. Ramirez, Lina Sulieman, David J. Schlueter, Alese Halvorson, Jun Qian, Francis Ratsimbazafy, Roxana Loperena, Kelsey Mayo, Melissa Basford, Nicole Deflaux, Karthik N. Muthuraman, Karthik Natarajan, Abel Kho, Hua Xu, Consuelo Wilkins, Hoda Anton-Culver, Eric Boerwinkle, Mine Cicek, Cheryl R. Clark, Elizabeth Cohn, Lucila Ohno-Machado, Sheri D. Schully, Brian K. Ahmedani, Maria Argos, Robert M. Cronin, Christopher O’Donnell, Mona Fouad, David B. Goldstein, Philip Greenland, Scott J. Hebbring, Elizabeth W. Karlson, Parinda Khatri, Bruce Korf, Jordan W. Smoller, Stephen Sodeke, John Wilbanks, Justin Hentges, Stephen Mockrin, Christopher Lunt, Stephanie A. Devaney, Kelly Gebo, Joshua C. Denny, Robert J. Carroll, David Glazer, Paul A. Harris, George Hripcsak, Anthony Philippakis, Dan M. Roden, Brian Ahmedani, Christine D. Cole Johnson, Habib Ahsan, Donna Antoine-LaVigne, Glendora Singleton, Eric Topol, Katie Baca-Motes, Steven Steinhubl, James Wade, Mark Begale, Praduman Jain, Scott Sutherland, Beth Lewis, Melissa Behringer, Ali G. Gharavi, Louise Bier, Murray H. Brilliant, Narayana Murali, Scott Joseph Hebbring, Dorothy Farrar-Edwards, Elizabeth Burnside, Marc K. Drezner, Amy Taylor, Veena Channamsetty, Wanda Montalvo, Yashoda Sharma, Carmen Chinea, Nancy Jenks, Steve Thibodeau, Beverly Wilson Holmes, Eric Schlueter, Ever Collier, Joyce Winkler, John Corcoran, Nick D’Addezio, Martha Daviglus, Robert Winn, Dan Roden, Joshua Denny, Kim Doheny, Debbie Nickerson, Evan Eichler, Gail Jarvik, Gretchen Funk, Heidi Rehm, Niall Lennon, Sekar Kathiresan, Stacey Gabriel, Richard Gibbs, Edgar M. Gil Rico, Joannie Grand, Paul Harris, Elizabeth Shenkman, William R. Hogan, Priscilla Igho-Pemu, Cliff Pollan, Milena Jorge, Sally Okun, Jordan Smoller, Shawn N. Murphy, Margaret Elizabeth Ross, Rainu Kaushal, Eboni Winford, Febe Wallace, Vik Kheterpal, Akinlolu Ojo, Francisco A. Moreno, Irving Kron, Rachele Peterson, Usha Menon, Patricia Watkins Lattimore, Noga Leviner, Juno Obedin-Maliver, Mitchell Lunn, Lynda Malik-Gagnon, Lara Mangravite, Adria Marallo, Oscar Marroquin, Shyam Visweswaran, Steven Reis, Gailen Marshall, Patrick McGovern, Deb Mignucci, John Moore, Fatima Munoz, Gregory Talavera, George T. O'Connor, Christopher O'Donnell, Greg Orr, Fornessa Randal, Andreas A. Theodorou, Eric Reiman, Mercedita Roxas-Murray, Louisa Stark, Ronnie Tepp, Alicia Zhou, Scott Topper, Rhonda Trousdale, Phil Tsao, Lisa Weidman, Scott T. Weiss, David Wellis, Jeffrey Whittle, Amanda Wilson, Stephan Zuchner, Michael E. Zwick
المصدر: Patterns. 3:100570
مصطلحات موضوعية: General Decision Sciences
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f18fa0113f46037c5495d8e969b6fae2
https://doi.org/10.1016/j.patter.2022.100570 -
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المؤلفون: Jeffrey C. Murray, Nils-Halvdan Morken, John R. Shaffer, David R. Crosslin, Ronny Myhre, Elizabeth W. Pugh, Mary L. Marazita, Kelli K. Ryckman, Frank Geller, Brandon W. Alleman, Mads Melbye, Ingrid H.G. Østensen, Heather A. Boyd, Eleanor Feingold, Aase Serine Devold Pay, Solveig Myking, Kim Doheny, Bjarke Feenstra, Ferdouse Begum, Per Magnus, Bo Jacobsson, Qi Zhang
المصدر: Pediatric research
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Denmark, Gestational Age, Genome-wide association study, Single-nucleotide polymorphism, Biology, Bioinformatics, DNA, Mitochondrial, Polymorphism, Single Nucleotide, Risk Assessment, Article, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Genotype, Odds Ratio, medicine, Humans, Genetic Predisposition to Disease, 030212 general & internal medicine, 030304 developmental biology, 0303 health sciences, Chi-Square Distribution, Norway, Infant, Newborn, Case-control study, Gestational age, Odds ratio, medicine.disease, 3. Good health, Phenotype, Premature birth, Case-Control Studies, Pediatrics, Perinatology and Child Health, Etiology, Premature Birth, Infant, Premature, Genome-Wide Association Study
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80dc08a1185eedf7c8dbb55608e6c2c1
https://doi.org/10.1038/pr.2012.112 -
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المؤلفون: Melissa D. Haslam, Fumiyuki Gardner, Coleen Greecher, Heather Stephens, Megan Marvin, Alexia Hozella, Kim Doheny
المصدر: Pediatrics. 142:686-686
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::35147b63401e7271a1bcd2915dbdf830
https://doi.org/10.1542/peds.142.1ma7.686 -
9An Autosomal Recessive Form of Bilateral Frontoparietal Polymicrogyria Maps to Chromosome 16q12.2-21
المؤلفون: Elizabeth W. Pugh, Susan E. Hong, Rachel Straussberg, Christopher A. Walsh, Lina Basel-Vanagaite, P. Ellen Grant, Yin Yao Shugart, Kim Doheny, Xianhua Piao, Betty Q. Doan
المصدر: The American Journal of Human Genetics. 70:1028-1033
مصطلحات موضوعية: Male, Adolescent, Genes, Recessive, Locus (genetics), Consanguinity, Biology, Nervous System Malformations, Identity by descent, Bilateral frontoparietal polymicrogyria, 03 medical and health sciences, 0302 clinical medicine, Genetic linkage, Parietal Lobe, Report, Genetics, Polymicrogyria, medicine, Humans, Pakistan, Genetics(clinical), Child, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Haplotype, Infant, Newborn, Chromosome Mapping, Infant, medicine.disease, Magnetic Resonance Imaging, Frontal Lobe, Pedigree, Haplotypes, Frontal lobe, Child, Preschool, Female, Lod Score, Chromosomes, Human, Pair 16, 030217 neurology & neurosurgery
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المؤلفون: Ingo Ruczinski, Laurence P. Frelin, Haiping Hao, Kurt N. Hetrick, Alan F. Scott, Benilton S. Carvalho, Rafael A. Irizarry, Steve Baylin, Forrest Spencer, Amanda Dziedzic, Kim Doheny, Chunfa Jie, Eitan Halper-Stromberg, Robert B. Scharpf, Anne E. Jedlicka, Jonathan Pevsner
مصطلحات موضوعية: Statistics and Probability, Male, Microarray, DNA Copy Number Variations, Copy number analysis, Single-nucleotide polymorphism, Computational biology, Biology, Biochemistry, Polymorphism, Single Nucleotide, Sensitivity and Specificity, Leverage (statistics), Humans, Copy-number variation, Molecular Biology, Oligonucleotide Array Sequence Analysis, Genetics, Pipeline (software), Original Papers, Computer Science Applications, Computational Mathematics, Computational Theory and Mathematics, Benchmark (computing), Spike (software development), Female, Algorithms
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::971f29beb2e2d1a872efb73f1c83e989
https://europepmc.org/articles/PMC3072561/