1,315 results for Metabolism,+Inborn+Errors+-+genetics

1,315 results for Metabolism,+Inborn+Errors+-+genetics

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      Genetic screening : programs, principles, and research ...
      Books

      Author / Creator:National Research Council (U.S.). Committee for the Study of Inborn Errors of Metabolism.
      Publisher:Washington : National Academy of Sciences, 1975.
      Date:1975.
      Call Numbers:T0282676
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      Journals

      Publisher:[Dordrecht] : Kluwer Academic PublishersDordrecht : SpringerOxford : John Wiley & Sons Ltd

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      ArticlesPeer ReviewedFull Text

      Author / Creator:Kim, Eun Ju ; Lee, Dong Hun ; Kim, Yeon Kyung ; Eun, Hee Chul ; Chung, Jin Ho
      Publisher:United States: Elsevier Inc
      Journal title:Journal of investigative dermatology, 2015-09, Vol.135 (9), p.2331-2334
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      ArticlesFull Text

      Author / Creator:Hesse, A
      Publisher:Germany
      Journal title:Urologe. Ausgabe A, 2002-09, Vol.41 (5), p.496-506; quiz 507-8
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      Author / Creator:Luciani, Alessandro ; Schumann, Anke ; Berquez, Marine ; Chen, Zhiyong ; Nieri, Daniela ; Failli, Mario ; Debaix, Huguette ; Festa, Beatrice Paola ; Tokonami, Natsuko ; Raimondi, Andrea ; Cremonesi, Alessio ; Carrella, Diego ; Forny, Patrick ; Kölker, Stefan ; Diomedi Camassei, Francesca ; Diaz, Francisca ; Moraes, Carlos T. ; Di Bernardo, Diego ; Baumgartner, Matthias R. ; Devuyst, Olivier
      Publisher:London: Nature Publishing Group UK
      Journal title:Nature communications, 2020-02, Vol.11 (1), p.970-970, Article 970
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      Author / Creator:Guan, Dongyin ; Lazar, Mitchell A
      Publisher:United States: American Society for Clinical Investigation
      Journal title:The Journal of clinical investigation, 2021-08, Vol.131 (15)
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      Author / Creator:Ferreira, Carlos R. ; van Karnebeek, Clara D.M. ; Vockley, Jerry ; Blau, Nenad
      Publisher:New York: Elsevier Inc
      Journal title:Genetics in medicine, 2019-01, Vol.21 (1), p.102-106
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      Author / Creator:Shin, So-Youn ; Fauman, Eric B ; Petersen, Ann-Kristin ; Krumsiek, Jan ; Santos, Rita ; Huang, Jie ; Arnold, Matthias ; Erte, Idil ; Forgetta, Vincenzo ; Yang, Tsun-Po ; Walter, Klaudia ; Menni, Cristina ; Chen, Lu ; Vasquez, Louella ; Valdes, Ana M ; Hyde, Craig L ; Wang, Vicky ; Ziemek, Daniel ; Roberts, Phoebe ; Xi, Li ; Grundberg, Elin ; Waldenberger, Melanie ; Richards, J Brent ; Mohney, Robert P ; Milburn, Michael V ; John, Sally L ; Trimmer, Jeff ; Theis, Fabian J ; Overington, John P ; Suhre, Karsten ; Brosnan, M Julia ; Gieger, Christian ; Kastenmüller, Gabi ; Spector, Tim D ; Soranzo, Nicole
      Publisher:New York: Nature Publishing Group US
      Journal title:Nature genetics, 2014-06, Vol.46 (6), p.543-550
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      Author / Creator:Adhikari, Aashish N. ; Gallagher, Renata C. ; Wang, Yaqiong ; Currier, Robert J. ; Amatuni, George ; Bassaganyas, Laia ; Chen, Flavia ; Kundu, Kunal ; Kvale, Mark ; Mooney, Sean D. ; Nussbaum, Robert L. ; Randi, Savanna S. ; Sanford, Jeremy ; Shieh, Joseph T. ; Srinivasan, Rajgopal ; Sunderam, Uma ; Tang, Hao ; Vaka, Dedeepya ; Zou, Yangyun ; Koenig, Barbara A. ; Kwok, Pui-Yan ; Risch, Neil ; Puck, Jennifer M. ; Brenner, Steven E.
      Publisher:New York: Nature Publishing Group US
      Journal title:Nature medicine, 2020-09, Vol.26 (9), p.1392-1397
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      Author / Creator:Kühnen, Peter ; Clément, Karine ; Wiegand, Susanna ; Blankenstein, Oliver ; Gottesdiener, Keith ; Martini, Lea L ; Mai, Knut ; Blume-Peytavi, Ulrike ; Grüters, Annette ; Krude, Heiko
      Publisher:United States: Massachusetts Medical Society
      Journal title:The New England journal of medicine, 2016-07, Vol.375 (3), p.240-246
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      Author / Creator:Tarailo-Graovac, Maja ; Shyr, Casper ; Ross, Colin J ; Horvath, Gabriella A ; Salvarinova, Ramona ; Ye, Xin C ; Zhang, Lin-Hua ; Bhavsar, Amit P ; Lee, Jessica J.Y ; Drögemöller, Britt I ; Abdelsayed, Mena ; Alfadhel, Majid ; Armstrong, Linlea ; Baumgartner, Matthias R ; Burda, Patricie ; Connolly, Mary B ; Cameron, Jessie ; Demos, Michelle ; Dewan, Tammie ; Dionne, Janis ; Evans, A. Mark ; Friedman, Jan M ; Garber, Ian ; Lewis, Suzanne ; Ling, Jiqiang ; Mandal, Rupasri ; Mattman, Andre ; McKinnon, Margaret ; Michoulas, Aspasia ; Metzger, Daniel ; Ogunbayo, Oluseye A ; Rakic, Bojana ; Rozmus, Jacob ; Ruben, Peter ; Sayson, Bryan ; Santra, Saikat ; Schultz, Kirk R ; Selby, Kathryn ; Shekel, Paul ; Sirrs, Sandra ; Skrypnyk, Cristina ; Superti-Furga, Andrea ; Turvey, Stuart E ; Van Allen, Margot I ; Wishart, David ; Wu, Jiang ; Wu, John ; Zafeiriou, Dimitrios ; Kluijtmans, Leo ; Wevers, Ron A ; Eydoux, Patrice ; Lehman, Anna M ; Vallance, Hilary ; Stockler-Ipsiroglu, Sylvia ; Sinclair, Graham ; Wasserman, Wyeth W ; van Karnebeek, Clara D
      Publisher:United States: Massachusetts Medical Society
      Journal title:The New England journal of medicine, 2016-06, Vol.374 (23), p.2246-2255
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      Author / Creator:Almási, Tímea ; Guey, Lin T ; Lukacs, Christine ; Csetneki, Kata ; Vokó, Zoltán ; Zelei, Tamás
      Publisher:England: BioMed Central
      Journal title:Orphanet journal of rare diseases, 2019-04, Vol.14 (1), p.84-84, Article 84
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      Author / Creator:Peng, Gang ; Shen, Peidong ; Gandotra, Neeru ; Le, Anthony ; Fung, Eula ; Jelliffe-Pawlowski, Laura ; Davis, Ronald W. ; Enns, Gregory M. ; Zhao, Hongyu ; Cowan, Tina M. ; Scharfe, Curt
      Publisher:New York: Nature Publishing Group US
      Journal title:Genetics in medicine, 2019-04, Vol.21 (4), p.896-903
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      Author / Creator:Deng, Dong ; Xu, Chao ; Sun, Pengcheng ; Wu, Jianping ; Yan, Chuangye ; Hu, Mingxu ; Yan, Nieng
      Publisher:London: Nature Publishing Group UK
      Journal title:Nature (London), 2014-06, Vol.510 (7503), p.121-125
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      Author / Creator:Surendran, Praveen ; Stewart, Isobel D. ; Au Yeung, Victoria P. W. ; Pietzner, Maik ; Raffler, Johannes ; Wörheide, Maria A. ; Li, Chen ; Smith, Rebecca F. ; Wittemans, Laura B. L. ; Bomba, Lorenzo ; Menni, Cristina ; Zierer, Jonas ; Rossi, Niccolò ; Sheridan, Patricia A. ; Watkins, Nicholas A. ; Mangino, Massimo ; Hysi, Pirro G. ; Di Angelantonio, Emanuele ; Falchi, Mario ; Spector, Tim D. ; Soranzo, Nicole ; Michelotti, Gregory A. ; Arlt, Wiebke ; Lotta, Luca A. ; Denaxas, Spiros ; Hemingway, Harry ; Gamazon, Eric R. ; Howson, Joanna M. M. ; Wood, Angela M. ; Danesh, John ; Wareham, Nicholas J. ; Kastenmüller, Gabi ; Fauman, Eric B. ; Suhre, Karsten ; Butterworth, Adam S. ; Langenberg, Claudia
      Publisher:New York: Nature Publishing Group US
      Journal title:Nature medicine, 2022-11, Vol.28 (11), p.2321-2332
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      Author / Creator:Lotta, Luca A. ; Pietzner, Maik ; Stewart, Isobel D. ; Wittemans, Laura B. L. ; Li, Chen ; Bonelli, Roberto ; Raffler, Johannes ; Biggs, Emma K. ; Oliver-Williams, Clare ; Auyeung, Victoria P. W. ; Luan, Jian’an ; Wheeler, Eleanor ; Paige, Ellie ; Surendran, Praveen ; Michelotti, Gregory A. ; Scott, Robert A. ; Burgess, Stephen ; Zuber, Verena ; Sanderson, Eleanor ; Koulman, Albert ; Imamura, Fumiaki ; Forouhi, Nita G. ; Khaw, Kay-Tee ; Griffin, Julian L. ; Wood, Angela M. ; Kastenmüller, Gabi ; Danesh, John ; Butterworth, Adam S. ; Gribble, Fiona M. ; Reimann, Frank ; Bahlo, Melanie ; Fauman, Eric ; Wareham, Nicholas J. ; Langenberg, Claudia
      Publisher:New York: Nature Publishing Group US
      Journal title:Nature genetics, 2021-01, Vol.53 (1), p.54-64
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      Author / Creator:Grace, Rachael F ; Rose, Christian ; Layton, D. Mark ; Galactéros, Frédéric ; Barcellini, Wilma ; Morton, D. Holmes ; van Beers, Eduard J ; Yaish, Hassan ; Ravindranath, Yaddanapudi ; Kuo, Kevin H.M ; Sheth, Sujit ; Kwiatkowski, Janet L ; Barbier, Ann J ; Bodie, Susan ; Silver, Bruce ; Hua, Lei ; Kung, Charles ; Hawkins, Peter ; Jouvin, Marie-Hélène ; Bowden, Chris ; Glader, Bertil
      Publisher:United States: Massachusetts Medical Society
      Journal title:The New England journal of medicine, 2019-09, Vol.381 (10), p.933-944
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