1,925 results for Genetic+Diseases,+Inborn+-+genetics

1,925 results for Genetic+Diseases,+Inborn+-+genetics

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    Journals

    Publisher:[Dordrecht] : Kluwer Academic PublishersDordrecht : SpringerOxford : John Wiley & Sons Ltd
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    Introduction to public health / Mary-Jane Schneider.
    Books

    Author / Creator:Schneider, Mary-Jane, 1939-
    Publisher:Burlington, Mass. : Jones & Bartlett Learning, c2014.
    Edition:4th ed.
    Call Numbers:G 2013/2693
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    ArticlesPeer ReviewedFull Text

    Author / Creator:Posey, Jennifer E ; Harel, Tamar ; Liu, Pengfei ; Rosenfeld, Jill A ; James, Regis A ; Coban Akdemir, Zeynep H ; Walkiewicz, Magdalena ; Bi, Weimin ; Xiao, Rui ; Ding, Yan ; Xia, Fan ; Beaudet, Arthur L ; Muzny, Donna M ; Gibbs, Richard A ; Boerwinkle, Eric ; Eng, Christine M ; Sutton, V. Reid ; Shaw, Chad A ; Plon, Sharon E ; Yang, Yaping ; Lupski, James R
    Publisher:United States: Massachusetts Medical Society
    Journal title:The New England journal of medicine, 2017-01, Vol.376 (1), p.21-31
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    Author / Creator:Petrovski, Slavé ; Wang, Quanli ; Heinzen, Erin L ; Allen, Andrew S ; Goldstein, David B
    Publisher:United States: Public Library of Science
    Journal title:PLoS genetics, 2013-08, Vol.9 (8), p.e1003709-e1003709
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    ArticlesPeer ReviewedFull Text

    Author / Creator:Rehm, Heidi L ; Berg, Jonathan S ; Brooks, Lisa D ; Bustamante, Carlos D ; Evans, James P ; Landrum, Melissa J ; Ledbetter, David H ; Maglott, Donna R ; Martin, Christa Lese ; Nussbaum, Robert L ; Plon, Sharon E ; Ramos, Erin M ; Sherry, Stephen T ; Watson, Michael S
    Publisher:United States: Massachusetts Medical Society
    Journal title:The New England journal of medicine, 2015-06, Vol.372 (23), p.2235-2242
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    Author / Creator:Biesecker, Leslie G ; Green, Robert C
    Publisher:Waltham, MA: Massachusetts Medical Society
    Journal title:The New England journal of medicine, 2014-06, Vol.370 (25), p.2418-2425
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    Author / Creator:Liu, Pengfei ; Meng, Linyan ; Normand, Elizabeth A ; Xia, Fan ; Song, Xiaofei ; Ghazi, Andrew ; Rosenfeld, Jill ; Magoulas, Pilar L ; Braxton, Alicia ; Ward, Patricia ; Dai, Hongzheng ; Yuan, Bo ; Bi, Weimin ; Xiao, Rui ; Wang, Xia ; Chiang, Theodore ; Vetrini, Francesco ; He, Weimin ; Cheng, Hanyin ; Dong, Jie ; Gijavanekar, Charul ; Benke, Paul J ; Bernstein, Jonathan A ; Eble, Tanya ; Eroglu, Yasemen ; Erwin, Deanna ; Escobar, Luis ; Gibson, James B ; Gripp, Karen ; Kleppe, Soledad ; Koenig, Mary K ; Lewis, Andrea M ; Natowicz, Marvin ; Mancias, Pedro ; Minor, LaKeesha ; Scaglia, Fernando ; Schaaf, Christian P ; Streff, Haley ; Vernon, Hilary ; Uhles, Crescenda L ; Zackai, Elaine H ; Wu, Nan ; Sutton, V. Reid ; Beaudet, Arthur L ; Muzny, Donna ; Gibbs, Richard A ; Posey, Jennifer E ; Lalani, Seema ; Shaw, Chad ; Eng, Christine M ; Lupski, James R ; Yang, Yaping
    Publisher:United States: Massachusetts Medical Society
    Journal title:The New England journal of medicine, 2019-06, Vol.380 (25), p.2478-2480
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    Author / Creator:Stewart, James B. ; Chinnery, Patrick F.
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature reviews. Genetics, 2015-09, Vol.16 (9), p.530-542
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    Author / Creator:Retterer, Kyle ; Juusola, Jane ; Cho, Megan T. ; Vitazka, Patrik ; Millan, Francisca ; Gibellini, Federica ; Vertino-Bell, Annette ; Smaoui, Nizar ; Neidich, Julie ; Monaghan, Kristin G. ; McKnight, Dianalee ; Bai, Renkui ; Suchy, Sharon ; Friedman, Bethany ; Tahiliani, Jackie ; Pineda-Alvarez, Daniel ; Richard, Gabriele ; Brandt, Tracy ; Haverfield, Eden ; Chung, Wendy K. ; Bale, Sherri
    Publisher:New York: Elsevier Inc
    Journal title:Genetics in medicine, 2016-07, Vol.18 (7), p.696-704
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    Author / Creator:Zhao, Bailin ; Rothenberg, Eli ; Ramsden, Dale A. ; Lieber, Michael R.
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature reviews. Molecular cell biology, 2020-12, Vol.21 (12), p.765-781
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    Author / Creator:Kaplanis, Joanna ; Samocha, Kaitlin E. ; Wiel, Laurens ; Zhang, Zhancheng ; Arvai, Kevin J. ; Eberhardt, Ruth Y. ; Gallone, Giuseppe ; Lelieveld, Stefan H. ; Martin, Hilary C. ; McRae, Jeremy F. ; Short, Patrick J. ; Torene, Rebecca I. ; de Boer, Elke ; Danecek, Petr ; Gardner, Eugene J. ; Huang, Ni ; Lord, Jenny ; Martincorena, Iñigo ; Pfundt, Rolph ; Reijnders, Margot R. F. ; Yeung, Alison ; Yntema, Helger G. ; Vissers, Lisenka E. L. M. ; Juusola, Jane ; Wright, Caroline F. ; Brunner, Han G. ; Firth, Helen V. ; FitzPatrick, David R. ; Barrett, Jeffrey C. ; Hurles, Matthew E. ; Gilissen, Christian ; Retterer, Kyle
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature (London), 2020-10, Vol.586 (7831), p.757-762
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    Author / Creator:Itan, Yuval ; Shang, Lei ; Boisson, Bertrand ; Patin, Etienne ; Bolze, Alexandre ; Moncada-Vélez, Marcela ; Scott, Eric ; Ciancanelli, Michael J. ; Lafaille, Fabien G. ; Markle, Janet G. ; Martinez-Barricarte, Ruben ; de Jong, Sarah Jill ; Kong, Xiao-Fei ; Nitschke, Patrick ; Belkadi, Aziz ; Bustamante, Jacinta ; Puel, Anne ; Boisson-Dupuis, Stéphanie ; Stenson, Peter D. ; Gleeson, Joseph G. ; Cooper, David N. ; Quintana-Murci, Lluis ; Claverie, Jean-Michel ; Zhang, Shen-Ying ; Abel, Laurent ; Casanova, Jean-Laurent
    Publisher:United States: National Academy of Sciences
    Journal title:Proceedings of the National Academy of Sciences - PNAS, 2015-11, Vol.112 (44), p.13615-13620
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    Author / Creator:Carvalho, Claudia M. B. ; Lupski, James R.
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature reviews. Genetics, 2016-04, Vol.17 (4), p.224-238
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    Author / Creator:Walsh, Roddy ; Thomson, Kate L. ; Ware, James S. ; Funke, Birgit H. ; Woodley, Jessica ; McGuire, Karen J. ; Mazzarotto, Francesco ; Blair, Edward ; Seller, Anneke ; Taylor, Jenny C. ; Minikel, Eric V. ; Exome Aggregation Consortium ; MacArthur, Daniel G. ; Farrall, Martin ; Cook, Stuart A. ; Watkins, Hugh
    Publisher:New York: Elsevier Inc
    Journal title:Genetics in medicine, 2017-02, Vol.19 (2), p.192-203
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