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1Academic Journal
المؤلفون: Scheinman, Steven J, Adonizio, Tanja, Schmude, Michelle, Jeffries, William, Hartle, J Edward, Byerley, Julie
المصدر: Journal of Medical Education and Curricular Development ; volume 10 ; ISSN 2382-1205 2382-1205
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2Academic Journal
المؤلفون: Kirby, Andrew, Gnirke, Andreas, Jaffe, David B, Barešová, Veronika, Pochet, Nathalie, Blumenstiel, Brendan, Ye, Chun, Aird, Daniel, Stevens, Christine, Robinson, James T, Cabili, Moran N, Gat-Viks, Irit, Kelliher, Edward, Daza, Riza, DeFelice, Matthew, Hůlková, Helena, Sovová, Jana, Vylet'al, Petr, Antignac, Corinne, Guttman, Mitchell, Handsaker, Robert E, Perrin, Danielle, Steelman, Scott, Sigurdsson, Snaevar, Scheinman, Steven J, Sougnez, Carrie, Cibulskis, Kristian, Parkin, Melissa, Green, Todd, Rossin, Elizabeth, Zody, Michael C, Xavier, Ramnik J, Pollak, Martin R, Alper, Seth L, Lindblad-Toh, Kerstin, Gabriel, Stacey, Hart, P Suzanne, Regev, Aviv, Nusbaum, Chad, Kmoch, Stanislav, Bleyer, Anthony J, Lander, Eric S, Daly, Mark J
المصدر: Nature Genetics. 45(3)
مصطلحات موضوعية: Biotechnology, Kidney Disease, Genetics, 2.1 Biological and endogenous factors, Aetiology, Good Health and Well Being, Cytosine, Female, Genetic Linkage, Haplotypes, High-Throughput Nucleotide Sequencing, Humans, Male, Minisatellite Repeats, Mucin-1, Mutation, Polycystic Kidney, Autosomal Dominant, Biological Sciences, Medical and Health Sciences, Developmental Biology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/1bm699hc
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3Academic Journal
المؤلفون: Wilson, Frederick H., Hariri, Ali, Farhi, Anita, Zhao, Hongyu, Petersen, Kitt Falk, Toka, Hakan R., Nelson-Williams, Carol, Raja, Khalid M., Kashgarian, Michael, Shulman, Gerald I., Scheinman, Steven J., Lifton, Richard P.
المصدر: Science, 2004 Nov 01. 306(5699), 1190-1194.
URL الوصول: https://www.jstor.org/stable/3839492
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4Academic Journal
المؤلفون: Scheinman, Steven J.
المصدر: Academic Medicine ; volume 94, issue 5, page 613-613 ; ISSN 1040-2446
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5Academic Journal
المؤلفون: Scheinman, Steven J., Fleming, Patrick, Niotis, Kellyann
المصدر: Academic Medicine ; volume 93, issue 9, page 1301-1306 ; ISSN 1040-2446
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6Academic Journal
المؤلفون: Wang, Xiangling, Anglani, Franca, Beara-Lasic, Lada, Mehta, Anila J., Vaughan, Lisa E., Herrera Hernandez, Loren, Cogal, Andrea, Scheinman, Steven J., Ariceta, Gema, Isom, Robert, Copelovitch, Lawrence, Enders, Felicity T., Del Prete, Dorella, Vezzoli, Giuseppe, Paglialonga, Fabio, Harris, Peter C., Lieske, John C.
المصدر: Clinical Journal of the American Society of Nephrology ; volume 11, issue 12, page 2168-2176 ; ISSN 1555-9041 1555-905X
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7Academic Journal
المؤلفون: Bleyer, Anthony J., Kmoch, Stanislav, Antignac, Corinne, Robins, Vicki, Kidd, Kendrah, Kelsoe, John R., Hladik, Gerald, Klemmer, Philip, Knohl, Stephen J., Scheinman, Steven J., Vo, Nam, Santi, Ann, Harris, Alese, Canaday, Omar, Weller, Nelson, Hulick, Peter J., Vogel, Kristen, Rahbari-Oskoui, Frederick F., Tuazon, Jennifer, Deltas, Constantinos, Somers, Douglas, Megarbane, Andre, Kimmel, Paul L., Sperati, C. John, Orr-Urtreger, Avi, Ben-Shachar, Shay, Waugh, David A., McGinn, Stella, Hodaňová, Kateřina, Vylet'al, Petr, Živná, Martina, Hart, Thomas C., Hart, P. Suzanne
المصدر: Clinical Journal of the American Society of Nephrology ; volume 9, issue 3, page 527-535 ; ISSN 1555-9041
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8Academic Journal
المؤلفون: Perry, Guy M. L., Scheinman, Steven J., Asplin, John R.
المساهمون: Rastaldi, Maria Pia
المصدر: PLoS ONE ; volume 8, issue 6, page e53637 ; ISSN 1932-6203
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9Academic Journal
المؤلفون: Jaureguiberry, Graciana, De la Dure-Molla, Muriel, Parry, David, Quentric, Mickael, Himmerkus, Nina, Koike, Toshiyasu, Poulter, James, Klootwijk, Enriko, Robinette, Steven L., Howie, Alexander J., Patel, Vaksha, Figueres, Marie-Lucile, Stanescu, Horia C., Issler, Naomi, Nicholson, Jeremy K., Bockenhauer, Detlef, Laing, Christopher, Walsh, Stephen B., McCredie, David A., Povey, Sue, Asselin, Audrey, Picard, Arnaud, Coulomb, Aurore, Medlar, Alan J., Bailleul-Forestier, Isabelle, Verloes, Alain, Le Caignec, Cedric, Roussey, Gwenaelle, Guiol, Julien, Isidor, Bertrand, Logan, Clare, Shore, Roger, Johnson, Colin, Inglehearn, Christopher, Al-Bahlani, Suhaila, Schmittbuhl, Matthieu, Clauss, François, Huckert, Mathilde, Laugel, Virginie, Ginglinger, Emmanuelle, Pajarola, Sandra, Spartà, Giuseppina, Bartholdi, Deborah, Rauch, Anita, Addor, Marie-Claude, Yamaguti, Paulo M., Safatle, Heloisa P., Acevedo, Ana Carolina, Martelli-Júnior, Hercílio, dos Santos Netos, Pedro E., Coletta, Ricardo D., Gruessel, Sandra, Sandmann, Carolin, Ruehmann, Denise, Langman, Craig B., Scheinman, Steven J., Ozdemir-Ozenen, Didem, Hart, Thomas C., Hart, P Suzanne, Neugebauer, Ute, Schlatter, Eberhard, Houillier, Pascal, Gahl, William A., Vikkula, Miikka, Bloch-Zupan, Agnès, Bleich, Markus, Kitagawa, Hiroshi, Unwin, Robert J., Mighell, Alan, Berdal, Ariane, Kleta, Robert
مصطلحات موضوعية: article, ScholarlyArticle, ddc:610, Published Version, Humans, Amelogenesis Imperfecta, Nephrocalcinosis, Syndrome, Genetic Predisposition to Disease, Dental Enamel Proteins, Pedigree, Sequence Analysis, DNA, Consanguinity, Genes, Recessive, Mutation, Adolescent, Adult, Middle Aged, Child, Family Health, Female, Male, Genome-Wide Association Study, Young Adult, Exome
Relation: Nephron. Physiology -- 1660-2137; https://doi.org/10.1159/000349989; https://nbn-resolving.org/urn:nbn:de:gbv:8-mods-2020-00556-0; https://macau.uni-kiel.de/receive/macau_mods_00000328; https://macau.uni-kiel.de/servlets/MCRFileNodeServlet/macau_derivate_00001311/349989.pdf
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10Academic Journal
المؤلفون: Kirby, Andrew, Gnirke, Andreas, Jaffe, David B., Baresova, Veronika, Pochet, Nathalie, Blumenstiel, Brendan, Ye, Chun, Aird, Daniel, Stevens, Christine, Robinson, James T., Cabili, Moran N., Gat-Viks, Irit, Kelliher, Edward, Daza, Riza, DeFelice, Matthew, Hulkova, Helena, Sovova, Jana, Vylet'al, Petr, Antignac, Corinne, Guttman, Mitchell, Handsaker, Robert E., Perrin, Danielle, Steelman, Scott, Sigurdsson, Snaevar, Scheinman, Steven J., Sougnez, Carrie, Cibulskis, Kristian, Parkin, Melissa, Green, Todd, Rossin, Elizabeth, Zody, Michael C., Xavier, Ramnik J., Pollak, Martin R., Alper, Seth L., Lindblad-Toh, Kerstin, Gabriel, Stacey B., Hart, P. Suzanne, Regev, Aviv, Nusbaum, Chad, Kmoch, Stanislav, Bleyer, Anthony J., Daly, Mark J., Lander, Eric Steven
المساهمون: Massachusetts Institute of Technology. Department of Biology, Regev, Aviv, Lander, Eric S.
المصدر: Regev via Courtney Crummett
وصف الملف: application/pdf
Relation: http://dx.doi.org/10.1038/ng.2543; Nature Genetics; http://hdl.handle.net/1721.1/80712; Kirby, Andrew, Andreas Gnirke, David B Jaffe, Veronika Barešová, Nathalie Pochet, Brendan Blumenstiel, Chun Ye, et al. “Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.” Nature Genetics 45, no. 3 (February 10, 2013): 299-303.; orcid:0000-0001-8567-2049
الاتاحة: http://hdl.handle.net/1721.1/80712
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11Academic Journal
المؤلفون: Perry, Guy M L, Nehrke, Keith W, Bushinsky, David A, Reid, Robert, Lewandowski, Krista L, Hueber, Paul, Scheinman, Steven J
المصدر: Genetics ; volume 191, issue 3, page 1003-1013 ; ISSN 1943-2631
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12Academic Journal
المؤلفون: Scheinman, Steven J., Feehally, John, Feest, Terry G., Norden, Anthony G.W., Thakker, Rajesh V., Unwin, Robert J.
المصدر: Kidney International ; volume 82, issue 2, page 121-122 ; ISSN 0085-2538
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13Academic Journal
المؤلفون: Lloyd, Sarah E., Pearce, Simon H. S., Fisher, Simon E., Steinmeyer, Klaus, Schwappach, Blanche, Scheinman, Steven J., Harding, Brian, Bolino, Alessandra, Devoto, Marcella, Goodyer, Paul, Rigden, Susan P. A., Wrong, Oliver, Jentsch, Thomas J., Craig, Ian W., Thakker, Rajesh V.
المساهمون: Lloyd, Sarah E., Pearce, Simon H. S., Fisher, Simon E., Steinmeyer, Klaus, Schwappach, Blanche, Scheinman, Steven J., Harding, Brian, Bolino, Alessandra, Devoto, Marcella, Goodyer, Paul, Rigden, Susan P. A., Wrong, Oliver, Jentsch, Thomas J., Craig, Ian W., Thakker, Rajesh V.
Relation: https://resolver.sub.uni-goettingen.de/purl?gro-2/2308; 8559248; A1996TT30400058; 3144660
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14Academic Journal
المؤلفون: Hoopes, Richard R., Middleton, Frank A., Sen, Saunak, Hueber, Paul A., Reid, Robert, Bushinsky, David A., Scheinman, Steven J.
المصدر: Journal of the American Society of Nephrology ; volume 17, issue 5, page 1292-1304 ; ISSN 1046-6673
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15Academic Journal
المؤلفون: Hoopes, Richard R., Shrimpton, Antony E., Knohl, Stephen J., Hueber, Paul, Hoppe, Bernd, Matyus, Janos, Simckes, Ari, Tasic, Velibor, Toenshoff, Burkhard, Suchy, Sharon F., Nussbaum, Robert L., Scheinman, Steven J.
المصدر: The American Journal of Human Genetics ; volume 76, issue 2, page 260-267 ; ISSN 0002-9297
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16Academic Journal
المؤلفون: Scheinman, Steven J.
المصدر: Journal of Investigative Medicine ; volume 52, issue 4, page 220-220 ; ISSN 1081-5589 1708-8267
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17Academic Journal
المؤلفون: Hoopes, Richard R., Raja, Khalid M., Koich, April, Hueber, Paul, Reid, Robert, Knohl, Stephen J., Scheinman, Steven J.
المصدر: Kidney International ; volume 65, issue 5, page 1615-1620 ; ISSN 0085-2538
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18Academic Journal
المؤلفون: Hoopes, Richard R., Reid, Robert, Sen, Saunak, Szpirer, Claude, Dixon, Peter, Pannett, Anna A.J., Thakker, Rajesh V., Bushinsky, David A., Scheinman, Steven J.
المصدر: Journal of the American Society of Nephrology ; volume 14, issue 7, page 1844-1850 ; ISSN 1046-6673
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19Academic Journal
المؤلفون: Moulin, Pierre, Igarashi, Takashi, Van Der Smissen, Patrick, Cosyns, Jean-Pierre, Verroust, Pierre, Thakker, Rajesh V., Scheinman, Steven J., Courtoy, Pierre J., Devuyst, Olivier
المصدر: Kidney International ; volume 63, issue 4, page 1285-1295 ; ISSN 0085-2538
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20Academic Journal
المؤلفون: Raja, Khalid A, Schurman, Scott, D’Mello, Richard G., Blowey, Douglas, Goodyer, Paul, Van Why, Scott, Ploutz-Snyder, Robert J., Asplin, John, Scheinman, Steven J.
المصدر: Journal of the American Society of Nephrology ; volume 13, issue 12, page 2938-2944 ; ISSN 1046-6673