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1Academic Journal
المؤلفون: Tanner Stephan M, Sturm Amy C, Baack Elizabeth C, Liyanarachchi Sandya, de la Chapelle Albert
المصدر: Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 56 (2012)
مصطلحات موضوعية: Vitamin B12, Cobalamin, Hereditary cobalamin malabsorption, Amnionless, Gastric intrinsic factor, Cubilin, Ancestry, Genetic testing, Founder mutation, Genetic heterogeneity, Medicine
وصف الملف: electronic resource
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2Academic Journal
المؤلفون: Beech Cameron M, Liyanarachchi Sandya, Shah Nidhi P, Sturm Amy C, Sadiq May F, de la Chapelle Albert, Tanner Stephan M
المصدر: Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 74 (2011)
مصطلحات موضوعية: Imerslund-Gräsbeck syndrome, juvenile cobalamin deficiency, founder mutation, age estimation, mutation screening, anemia, ethnicity, Medicine
وصف الملف: electronic resource
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3Academic Journal
المؤلفون: Liyanarachchi Sandya, Agosto-Pérez Francisco J, Singer Gregory AC, Jin Victor X, Davuluri Ramana V
المصدر: BMC Bioinformatics, Vol 7, Iss 1, p 114 (2006)
مصطلحات موضوعية: Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5
وصف الملف: electronic resource
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4Academic Journal
المصدر: Alimentary Pharmacology & Therapeutics ; volume 60, issue 3, page 350-356 ; ISSN 0269-2813 1365-2036
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5Academic Journal
المؤلفون: DeBoy, Emily A., Nicosia, Anna M., Liyanarachchi, Sandya, Iyer, Sheila S., Shah, Manisha H., Ringel, Matthew D., Brock, Pamela, Armanios, Mary
المصدر: The American Journal of Human Genetics ; volume 111, issue 6, page 1114-1124 ; ISSN 0002-9297
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6Academic Journal
المؤلفون: Liyanarachchi, Sandya, Gudmundsson, Julius, Ferkingstad, Egil, He, Huiling, Jonasson, Jon G., Tragante, Vinicius, Asselbergs, Folkert W., Xu, Li, Kiemeney, Lambertus A., Netea-Maier, Romana T., Mayordomo, Jose I., Plantinga, Theo S., Hjartarson, Hannes, Hrafnkelsson, Jon, Sturgis, Erich M., Brock, Pamela, Nabhan, Fadi, Thorleifsson, Gudmar, Ringel, Matthew D., Stefansson, Kari, de la Chapelle, Albert
المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2020 Mar . 117(11), 5997-6002.
URL الوصول: https://www.jstor.org/stable/26929363
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7Academic Journal
المؤلفون: Nieminen, Taina Tuulikki, Liyanarachchi, Sandya, Comiskey, Daniel F., Wang, Yanqiang, Li, Wei, Hendrickson, Isabella V., Brock, Pamela, de la Chapelle, Albert
المساهمون: Department of Medical and Clinical Genetics, Biosciences
مصطلحات موضوعية: Genetics, developmental biology, physiology
وصف الملف: application/pdf
Relation: Nieminen , T T , Liyanarachchi , S , Comiskey , D F , Wang , Y , Li , W , Hendrickson , I V , Brock , P & de la Chapelle , A 2021 , ' A novel essential splice site variant in SPTB in a large hereditary spherocytosis family ' , Molecular Genetics & Genomic Medicine , vol. 9 , no. 5 , 1641 . https://doi.org/10.1002/mgg3.1641; http://hdl.handle.net/10138/339916; b4362a06-2f1f-4f0f-bd20-b3c2f9c01645; 000646669500001
الاتاحة: http://hdl.handle.net/10138/339916
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8Academic Journal
المؤلفون: Zhou, Wei, Brumpton, Ben, Kabil, Omer, Gudmundsson, Julius, Thorleifsson, Gudmar, Weinstock, Josh, Zawistowski, Matthew, Nielsen, Jonas B., Chaker, Layal, Medici, Marco, Teumer, Alexander, Naitza, Silvia, Sanna, Serena, Schultheiss, Ulla T., Cappola, Anne, Karjalainen, Juha, Kurki, Mitja, Oneka, Morgan, Taylor, Peter, Fritsche, Lars G., Graham, Sarah E., Wolford, Brooke N., Overton, William, Rasheed, Humaira, Haug, Eirin B., Gabrielsen, Maiken E., Skogholt, Anne Heidi, Surakka, Ida, Davey Smith, George, Pandit, Anita, Roychowdhury, Tanmoy, Hornsby, Whitney E., Jonasson, Jon G., Senter, Leigha, Liyanarachchi, Sandya, Ringel, Matthew D., Xu, Li, Kiemeney, Lambertus A., He, Huiling, Netea-Maier, Romana T., Mayordomo, Jose I., Plantinga, Theo S., Hrafnkelsson, Jon, Hjartarson, Hannes, Sturgis, Erich M., Palotie, Aarno, Daly, Mark, Citterio, Cintia E., Arvan, Peter, Brummett, Chad M., Boehnke, Michael, de la Chapelle, Albert, Stefansson, Kari, Hveem, Kristian, Willer, Cristen J., Åsvold, Bjørn Olav
المساهمون: 1 Univ Michigan, Dept Computat Med & Bioinformat, Ann Arbor, MI USA 2 Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA USA 3 Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USA 4 Broad Inst Harvard & MIT, Stanley Ctr Psychiat Res, Cambridge, MA USA 5 Norwegian Univ Sci & Technol, Jebsen Ctr Genet Epidmiol, Dept Publ Hlth & Nursing, NTNU, Trondheim, Norway 6 Univ Bristol, Med Res Council, Integrative Epidemiology Unit, MRC, Bristol, England 7 Trondheim Reg & Univ Hosp, Olavs Hosp, Dept Thorac Med, St, Trondheim, Norway 8 Univ Michigan Med Sch, Dept Biological Chem, Ann Arbor, MI USA 9 Univ Michigan Med Sch, Div Metab Endocrinol & Diabet, Ann Arbor, MI USA 10 deCODE genet, AMGEN, 101 Reykjavik, Reykjavik, Iceland 11 Univ Michigan Sch Publ Hlth, Ctr Stat Genet, Dept BioStat, Ann Arbor, MI USA 12 Univ Michigan Med Sch, Dept Internal Med, Div Cardiol, Ann Arbor, MI USA 13 Statens Serum Inst, Dept Epidmiol Res, Copenhagen, Denmark 14 Erasmus MC Acad Ctr Thyroid Dis, Rotterdam, Netherlands 15 Erasmus MC, Dept Epidmiol, Rotterdam, Netherlands 16 Erasmus MC, Dept Internal Med, Rotterdam, Netherlands 17 Radboud Univ Med Centre, Radboud Inst Mol Life Sciences, Dept Internal Med, Div Endocrinol, 6500HB Nijmegen, Netherlands 18 Univ Med Greifswald, Inst Community Med, Greifswald, Germany 19 German Ctr Cardiovascular Res, DZHK, Partner Site Greifswald, Greifswald, Germany 20 Ist Ric Genet Biomedica, Consiglio Nazl Ric Monserrato, Monserrato, Italy 21 Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands 22 Univ Freiburg, Inst Genet Epidmiol, Fac Med, Med Ctr, Freiburg, Germany 23 Univ Freiburg, Fac Med,Med Ctr,Dept Med 4,Nephrology, Primary Care, Freiburg, Germany 24 Univ Penn Sch Med, Div Endocrinol, Diabet, & Metab, Philadelphia, PA USA 25 Univ Helsinki, Inst Mol Med Finland, Helsinki Inst Life Sciences, 00014 Helsinki, Finland 26 Cardiff Univ Sch Med, Syst Immunity Res Inst, Thyroid Res Grp, Cardiff, England 27 Norwegian Univ Sci & Technol, Fac Med & Hlth Sciences,Dept Publ Hlth,Nursing, NTNU, Trondheim, Norway 28 Univ Bristol, Bristol Med Sch, Dept Population Hlth Sciences, Bristol, England 29 Univ Hosp, Landspitali, 101 Reykjavik, Reykjavik, Iceland 30 Univ Iceland, Fac Med, 101 Reykjavik, Reykjavik, Iceland 31 Canc Registry, 105 Reykjavik, Reykjavik, Iceland 32 Ohio State Univ Comprehens Canc Ctr, Div Human Genet, Columbus, OH 43210 USA 33 Ohio State Univ Comprehens Canc Ctr, Dept Canc Biol & Genet, Columbus, OH 43210 USA 34 Ohio State Univ, Div Endocrinol, Diabet, & Metab, Columbus, OH 43210 USA 35 Univ Texas MD Anderson Canc Ctr, Dept Head & Neck Surg, Dept Epidmiol, Houston, TX 77030 USA 36 Radboud Univ Med Centre, Radboud Inst Hlth Sciences, 6500HB Nijmegen, Netherlands 37 Univ Colorado Hosp, Aurora, CO 80045 USA 38 Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sciences, Dept Pathol, 6500HB Nijmegen, Netherlands 39 Univers Buenos Aires, Facultad Farm BioQuim,Departamento MicroBiol, Inmunol Biotecnol,Catedra Genet, C1113AAD Buenos Aires, Argentina 40 Univers Buenos Aires, CONICET,Instituto Inmunol,Genet Metabolismo, INIGEM, C1120AAR Buenos Aires, Argentina 41 Univ Michigan Med Sch, Dept Anesthesiol, Div Pain Med, Ann Arbor, MI USA 42 Norwegian Univ Sci & Technol, HUNT Res Centre, Dept Publ Hlth & Nursing, NTNU, 7600 Levanger, Norway 43 Levanger Hosp, Trondelag Hosp Trust, Dept Med, 7600 Levanger, Norway 44 Univ Michigan, Dept Human Genet, Ann Arbor, MI USA 45 Trondheim Reg & Univ Hosp, Olavs Hosp, Dept Endocrinol, St, Trondheim, Norway
المصدر: Nature Communications ; 12 ; 1
مصطلحات موضوعية: General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, General Chemistry
Relation: https://www.nature.com/articles/s41467-021-27675-w; 1. Zhou W, Brumpton B, Kabil O, Gudmundsson J, Thorleifsson G, Weinstock J, et al. GWAS of thyroid stimulating hormone highlights the pleiotropic effects and inverse association with thyroid cancer (vol 11, 3981, 2020). Nat Commun. 2021;12(1).doi:10.1038/s41467-021-27675-w.; http://hdl.handle.net/2336/622075; NATURE COMMUNICATIONS; 27675
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9Academic Journal
المؤلفون: Brock, Pamela, Sevigny, Myriam, Liyanarachchi, Sandya, Comiskey, Daniel F., Li, Wei, Saarinen, Saila, Yilmaz, Ayse Selen, Nieminen, Anni I., Ringel, Matthew D., Peltomäki, Päivi, Ollila, Saara, Nieminen, Taina T.
المصدر: Thyroid® ; volume 34, issue 5, page 575-582 ; ISSN 1050-7256 1557-9077
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10Academic Journal
المؤلفون: Hurst, Zachary A., Liyanarachchi, Sandya, Brock, Pamela, He, Huiling, Nabhan, Fadi, Veloski, Colleen, Toland, Amanda E., Ringel, Matthew D., Jhiang, Sissy M.
المصدر: Thyroid® ; volume 34, issue 3, page 378-387 ; ISSN 1050-7256 1557-9077
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11Academic Journal
المؤلفون: Medici, Marco, Porcu, Eleonora, Pistis, Giorgio, Teumer, Alexander, Brown, Suzanne J, Jensen, Richard A, Rawal, Rajesh, Roef, Greet L, Plantinga, Theo S, Vermeulen, Sita H, Lahti, Jari, Simmonds, Matthew J, Husemoen, Lise Lotte N, Freathy, Rachel M, Shields, Beverley M, Pietzner, Diana, Nagy, Rebecca, Broer, Linda, Chaker, Layal, Korevaar, Tim IM, Plia, Maria Grazia, Sala, Cinzia, Völker, Uwe, Richards, J Brent, Sweep, Fred C, Gieger, Christian, Corre, Tanguy, Kajantie, Eero, Thuesen, Betina, Taes, Youri E, Visser, W Edward, Hattersley, Andrew T, Kratzsch, Jürgen, Hamilton, Alexander, Li, Wei, Homuth, Georg, Lobina, Monia, Mariotti, Stefano, Soranzo, Nicole, Cocca, Massimiliano, Nauck, Matthias, Spielhagen, Christin, Ross, Alec, Arnold, Alice, van de Bunt, Martijn, Liyanarachchi, Sandya, Heier, Margit, Grabe, Hans Jörgen, Masciullo, Corrado, Galesloot, Tessel E, Lim, Ee M, Reischl, Eva, Leedman, Peter J, Lai, Sandra, Delitala, Alessandro, Bremner, Alexandra P, Philips, David IW, Beilby, John P, Mulas, Antonella, Vocale, Matteo, Abecasis, Goncalo, Forsen, Tom, James, Alan, Widen, Elisabeth, Hui, Jennie, Prokisch, Holger, Rietzschel, Ernst E, Palotie, Aarno, Feddema, Peter, Fletcher, Stephen J, Schramm, Katharina, Rotter, Jerome I, Kluttig, Alexander, Radke, Dörte, Traglia, Michela, Surdulescu, Gabriela L, He, Huiling, Franklyn, Jayne A, Tiller, Daniel, Vaidya, Bijay, de Meyer, Tim, Jørgensen, Torben, Eriksson, Johan G, O'Leary, Peter C, Wichmann, Eric, Hermus, Ad R, Psaty, Bruce M, Ittermann, Till, Hofman, Albert, Bosi, Emanuele, Schlessinger, David, Wallaschofski, Henri, Pirastu, Nicola, Aulchenko, Yurii S, de la Chapelle, Albert, Netea-Maier, Romana T, Gough, Stephen CL, Schwabedissen, Henriette Meyer zu, Frayling, Timothy M, Kaufman, Jean-Marc
المصدر: PLOS Genetics. 10(2)
مصطلحات موضوعية: Biological Sciences, Genetics, Rare Diseases, Prevention, Clinical Research, Women's Health, Autoimmune Disease, 2.1 Biological and endogenous factors, 4.1 Discovery and preclinical testing of markers and technologies, Metabolic and endocrine, Autoantibodies, Genetic Loci, Genome-Wide Association Study, Graves Disease, Hashimoto Disease, Humans, Iodide Peroxidase, Risk Factors, Thyroiditis, Autoimmune, Thyrotropin, Developmental Biology
وصف الملف: application/pdf
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12Academic Journal
المؤلفون: Nieminen, Taina T., Liyanarachchi, Sandya, Comiskey, Daniel F., Wang, Yanqiang, Li, Wei, Hendrickson, Isabella V., Brock, Pamela, de la Chapelle, Albert, He, Huiling
المساهمون: National Cancer Institute
المصدر: Molecular Genetics & Genomic Medicine ; volume 9, issue 5 ; ISSN 2324-9269 2324-9269
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13Academic Journal
المؤلفون: He, Huiling, Liyanarachchi, Sandya, Li, Wei, Comiskey, Daniel F., Yan, Pearlly, Bundschuh, Ralf, Turkoglu, Altan M., Brock, Pamela, Ringel, Matthew D., de la Chapelle, Albert
المساهمون: National Cancer Institute
المصدر: Scientific Reports ; volume 11, issue 1 ; ISSN 2045-2322
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14Academic Journal
المؤلفون: He, Huiling, Li, Wei, Liyanarachchi, Sandya, Volinia, Stefano, Calin, George A., Liu, Chang-gong, Suster, Saul, Kloos, Richard T., Croce, Carlo M., de la Chapelle, Albert
المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2005 Dec . 102(52), 19075-19080.
URL الوصول: https://www.jstor.org/stable/4152567
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15
المؤلفون: Brock, Pamela, Sevigny, Myriam, Liyanarachchi, Sandya, Comiskey, Daniel F., Li, Wei, Saarinen, Saila Riitta, Yilmaz, Ayse Selen, Nieminen, Anni I., Ringel, Matthew D., Peltomäki, Päivi, Ollila, Saara, Nieminen, Taina T.
المساهمون: CAN-PRO - Translational Cancer Medicine Program, Lääketieteellisen genetiikan ja perinnöllisyyslääketieteen osasto, Suomen molekyylilääketieteen instituutti, Molekulaaristen ja integratiivisten biotieteiden tutkimusohjelma, Tutkimusohjelmayksikkö
مصطلحات موضوعية: Biolääketieteet
وصف الملف: application/pdf
Relation: http://hdl.handle.net/10138/589010
الاتاحة: http://hdl.handle.net/10138/589010
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16Academic Journal
المؤلفون: Yoon, Heejei, Liyanarachchi, Sandya, Wright, Fred A., Davuluri, Ramana, Lockman, Janet C., de la Chapelle, Albert, Pellegata, Natalia S.
المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2002 Nov . 99(24), 15632-15637.
URL الوصول: https://www.jstor.org/stable/3073824
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17Academic Journal
المؤلفون: Zhou, Wei, Brumpton, Ben, Kabil, Omer, Gudmundsson, Julius, Thorleifsson, Gudmar, Weinstock, Josh, Zawistowski, Matthew, Nielsen, Jonas B., Chaker, Layal, Medici, Marco, Teumer, Alexander, Naitza, Silvia, Sanna, Serena, Schultheiss, Ulla T., Cappola, Anne, Karjalainen, Juha, Kurki, Mitja, Oneka, Morgan, Taylor, Peter, Fritsche, Lars G., Graham, Sarah E., Wolford, Brooke N., Overton, William, Rasheed, Humaira, Haug, Eirin B., Gabrielsen, Maiken E., Skogholt, Anne Heidi, Surakka, Ida, Smith, George Davey, Pandit, Anita, Roychowdhury, Tanmoy, Hornsby, Whitney E., Jonasson, Jon G., Senter, Leigha, Liyanarachchi, Sandya, Ringel, Matthew D., Xu, Li, Kiemeney, Lambertus A., He, Huiling, Netea-Maier, Romana T., Mayordomo, Jose, Plantinga, Theo S., Hrafnkelsson, Jon, Hjartarson, Hannes, Sturgis, Erich M., Palotie, Aarno, Daly, Mark, Citterio, Cintia E., Arvan, Peter, Brummett, Chad M., Boehnke, Michael, de la Chapelle, Albert, Stefansson, Kari, Hveem, Kristian, Willer, Cristen J., Asvold, Bjorn Olav
المساهمون: Institute for Molecular Medicine Finland, Helsinki Institute of Life Science HiLIFE, University of Helsinki, Centre of Excellence in Complex Disease Genetics, Research Programs Unit, Aarno Palotie / Principal Investigator, Genomics of Neurological and Neuropsychiatric Disorders, HUS Helsinki and Uusimaa Hospital District
مصطلحات موضوعية: ENDOGENOUS SUBCLINICAL HYPERTHYROIDISM, SERUM THYROTROPIN CONCENTRATION, GENOME-WIDE ASSOCIATION, CONGENITAL HYPOTHYROIDISM, COMMON VARIANTS, TSH, RECEPTOR, THYROGLOBULIN, HYPERTENSION, MALIGNANCY, Biomedicine
وصف الملف: application/pdf
Relation: We acknowledge the University of Michigan Precision Health Initiative and Medical School Central Biorepository for providing biospecimen storage, management, processing, and distribution services, and the Center for Statistical Genetics in the Department of Biostatistics at the School of Public Health for genotype data curation, imputation, and management in support of this research (for MGI cohort). The biochemical work at the University of Michigan was done with funding from NIH R01 DK-40344. This research has been conducted using the UK Biobank Resource under application number 24460. The HUNT Study is a collaboration between the HUNT Research Centre (Faculty of Medicine and Health Sciences, NTNU, Norwegian University of Science and Technology), Nord-TrOndelag County Council, Central Norway Regional Health Authority, and the Norwegian Institute of Public Health. The genotyping in HUNT was financed by the National Institutes of Health; University of Michigan; the Research Council of Norway; the Liaison Committee for Education, Research and Innovation in Central Norway; and the Joint Research Committee between St Olav's Hospital and the Faculty of Medicine and Health Sciences, NTNU. We thank Sean Caron for web development for data sharing. Support for this research was provided by NIH grant DK062370 (M.B.). Ohio State Cohort was supported by NIH P50CA168505 SPORE (M.D.R. and A.d.l.C.). Support for the HUNT and MGI analysis was additionally provided by R35HL135824 (C.J.W.) and R01HL109946 (C.J.W.). W.Z. was supported by the National Human Genome Research Institute of the National Institutes of Health under award number T32HG010464. G.D.S., B.B., H.R. and E.B.H. work in the Medical Research Council Integrative Epidemiology Unit at the University of Bristol MC_UU_00011/1.; Zhou , W , Brumpton , B , Kabil , O , Gudmundsson , J , Thorleifsson , G , Weinstock , J , Zawistowski , M , Nielsen , J B , Chaker , L , Medici , M , Teumer , A , Naitza , S , Sanna , S , Schultheiss , U T , Cappola , A , Karjalainen , J , Kurki , M , Oneka , M , Taylor , P , Fritsche , L G , Graham , S E , Wolford , B N , Overton , W , Rasheed , H , Haug , E B , Gabrielsen , M E , Skogholt , A H , Surakka , I , Smith , G D , Pandit , A , Roychowdhury , T , Hornsby , W E , Jonasson , J G , Senter , L , Liyanarachchi , S , Ringel , M D , Xu , L , Kiemeney , L A , He , H , Netea-Maier , R T , Mayordomo , J , Plantinga , T S , Hrafnkelsson , J , Hjartarson , H , Sturgis , E M , Palotie , A , Daly , M , Citterio , C E , Arvan , P , Brummett , C M , Boehnke , M , de la Chapelle , A , Stefansson , K , Hveem , K , Willer , C J & Asvold , B O 2020 , ' GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer ' , Nature Communications , vol. 11 , no. 1 , 3981 . https://doi.org/10.1038/s41467-020-17718-z; ORCID: /0000-0002-2527-5874/work/97266465; http://hdl.handle.net/10138/319425; 70ff9846-1c09-4867-9953-282e79ce63c3; 000561098400034
الاتاحة: http://hdl.handle.net/10138/319425
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18Academic Journal
المؤلفون: Comiskey Jr., Daniel Forrest, He, Huiling, Liyanarachchi, Sandya, Sheikh, Mehek S, Genutis, Luke K, Hendrickson, Isabella V, Yu, Lianbo, Brock, Pamela L, de la Chapelle, Albert
مصطلحات موضوعية: Cancer genetics
وصف الملف: text/html
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19Academic Journal
المؤلفون: Comiskey, Daniel F., He, Huiling, Liyanarachchi, Sandya, Sheikh, Mehek S., Hendrickson, Isabella V., Yu, Lianbo, Brock, Pamela L., de la Chapelle, Albert
المساهمون: National Cancer Institute
المصدر: Scientific Reports ; volume 10, issue 1 ; ISSN 2045-2322
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20Academic Journal
المؤلفون: Lankenau, Malori A., Patel, Ravi, Liyanarachchi, Sandya, Maharry, Sophia E., Hoag, Kevin W., Duggan, Megan, Walker, Christopher J., Markowitz, Joseph, Carson, William E., Eisfeld, Ann-Kathrin, de la Chapelle, Albert
المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2015 Dec 01. 112(49), E6744-E6751.
URL الوصول: https://www.jstor.org/stable/26466564