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

الوصول الحر: https://escholarship.org/uc/item/1bm699hcTest

المؤلفون: Kaur, Manjit, Hadley, Donald W., Muenke, Maximilian, Hart, P. Suzanne

المصدر: Molecular Genetics & Genomic Medicine ; volume 7, issue 1 ; ISSN 2324-9269 2324-9269

الإتاحة: https://doi.org/10.1002/mgg3.599Test

المؤلفون: Kaur, Manjit, Hadley, Donald W., Muenke, Maximilian, Hart, P. Suzanne

المصدر: Molecular Genetics & Genomic Medicine ; volume 7, issue 1 ; ISSN 2324-9269 2324-9269

الإتاحة: https://doi.org/10.1002/mgg3.609Test

المؤلفون: Ferreira, Carlos R., Regier, Debra S., Hadley, Donald W., Hart, P. Suzanne, Muenke, Maximilian

المصدر: Molecular Genetics & Genomic Medicine ; volume 5, issue 4, page 307-316 ; ISSN 2324-9269 2324-9269

الإتاحة: https://doi.org/10.1002/mgg3.318Test

المؤلفون: Hart, P. Suzanne, Hart, Thomas C.

المصدر: Molecular Genetics & Genomic Medicine ; volume 4, issue 2, page 123-125 ; ISSN 2324-9269 2324-9269

الإتاحة: https://doi.org/10.1002/mgg3.216Test

المؤلفون: Hart, P. Suzanne, Muenke, Maximilian

المصدر: Molecular Genetics & Genomic Medicine ; volume 3, issue 6, page 481-482 ; ISSN 2324-9269 2324-9269

الإتاحة: https://doi.org/10.1002/mgg3.185Test

المؤلفون: Hart, Thomas C., ÖZDEMİR KARATAŞ, Meltem, Hart, P. Suzanne, Özdemir Özenen, Didem

المساهمون: Yeditepe Üniversitesi ,, 687821

مصطلحات موضوعية: Klinik Tıp (MED), Sağlık Bilimleri, Tıp

العلاقة: CASE REPORTS IN DENTISTRY; ÖZDEMİR KARATAŞ M., Özdemir Özenen D., Hart T. C. , Hart P. S. , "Craniodentofacial Manifestations in a Rare Syndrome: Orofaciodigital Type IV (Mohr-Majewski Syndrome)", CASE REPORTS IN DENTISTRY, no.605892, ss.1-5, 2014; vv_1032021; av_93bd0f1f-5d7e-4b1d-8239-cea6247f9052; http://hdl.handle.net/20.500.12627/99546Test; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4283451/pdf/CRID2014-605892.pdfTest

الإتاحة: https://doi.org/20.500.12627/99546Test
https://hdl.handle.net/20.500.12627/99546Test
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4283451/pdf/CRID2014-605892.pdfTest

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

الإتاحة: https://doi.org/10.2215/cjn.06380613Test
https://journals.lww.com/01277230-201403000-00017Test

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

العلاقة: Nephron. Physiology -- 1660-2137; https://doi.org/10.1159/000349989Test; https://nbn-resolving.org/urn:nbn:de:gbv:8-mods-2020-00556-0Test; https://macau.uni-kiel.de/receive/macau_mods_00000328Test; https://macau.uni-kiel.de/servlets/MCRFileNodeServlet/macau_derivate_00001311/349989.pdfTest

الإتاحة: https://doi.org/10.1159/000349989Test
https://nbn-resolving.org/urn:nbn:de:gbv:8-mods-2020-00556-0Test
https://macau.uni-kiel.de/receive/macau_mods_00000328Test
https://macau.uni-kiel.de/servlets/MCRFileNodeServlet/macau_derivate_00001311/349989.pdfTest

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

العلاقة: http://dx.doi.org/10.1038/ng.2543Test; Nature Genetics; http://hdl.handle.net/1721.1/80712Test; 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

الإتاحة: https://doi.org/10.1038/ng.2543Test
http://hdl.handle.net/1721.1/80712Test