39 results for Abnormalities,+Multiple+-+enzymology

39 results for Abnormalities,+Multiple+-+enzymology

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    Author / Creator:Coelho, David ; Kim, Jaeseung C ; Miousse, Isabelle R ; Fung, Stephen ; du Moulin, Marcel ; Buers, Insa ; Suormala, Terttu ; Burda, Patricie ; Frapolli, Michele ; Stucki, Martin ; Nürnberg, Peter ; Thiele, Holger ; Robenek, Horst ; Höhne, Wolfgang ; Longo, Nicola ; Pasquali, Marzia ; Mengel, Eugen ; Watkins, David ; Shoubridge, Eric A ; Majewski, Jacek ; Rosenblatt, David S ; Fowler, Brian ; Rutsch, Frank ; Baumgartner, Matthias R
    Publisher:New York: Nature Publishing Group US
    Journal title:Nature genetics, 2012-10, Vol.44 (10), p.1152-1155
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    Author / Creator:Enns, Gregory M. ; Shashi, Vandana ; Bainbridge, Matthew ; Gambello, Michael J. ; Zahir, Farah R. ; Bast, Thomas ; Crimian, Rebecca ; Schoch, Kelly ; Platt, Julia ; Cox, Rachel ; Bernstein, Jonathan A. ; Scavina, Mena ; Walter, Rhonda S. ; Bibb, Audrey ; Jones, Melanie ; Hegde, Madhuri ; Graham, Brett H. ; Need, Anna C. ; Oviedo, Angelica ; Schaaf, Christian P. ; Boyle, Sean ; Butte, Atul J. ; Chen, Rong ; Clark, Michael J. ; Haraksingh, Rajini ; Cowan, Tina M. ; He, Ping ; Langlois, Sylvie ; Zoghbi, Huda Y. ; Snyder, Michael ; Gibbs, Richard A. ; Freeze, Hudson H. ; Goldstein, David B.
    Publisher:New York: Nature Publishing Group US
    Journal title:Genetics in medicine, 2014-10, Vol.16 (10), p.751-758
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    Author / Creator:Sohn, Mira ; Ivanova, Pavlina ; Brown, H. Alex ; Toth, Daniel J. ; Varnai, Peter ; Kim, Yeun Ju ; Balla, Tamas
    Publisher:United States: National Academy of Sciences
    Journal title:Proceedings of the National Academy of Sciences - PNAS, 2016-04, Vol.113 (16), p.4314-4319
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    Author / Creator:Woodbine, Lisa ; Neal, Jessica A. ; Sasi, Nanda-Kumar ; Shimada, Mayuko ; Deem, Karen ; Coleman, Helen ; Dobyns, William B. ; Ogi, Tomoo ; Meek, Katheryn ; Davies, E. Graham ; Jeggo, Penny A.
    Publisher:United States: American Society for Clinical Investigation
    Journal title:The Journal of clinical investigation, 2013-07, Vol.123 (7), p.2969-2980
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    Author / Creator:Murga, Matilde ; Bunting, Samuel ; Montaña, Maria F ; Soria, Rebeca ; Mulero, Francisca ; Cañamero, Marta ; Lee, Youngsoo ; McKinnon, Peter J ; Nussenzweig, Andre ; Fernandez-Capetillo, Oscar
    Publisher:New York: Nature Publishing Group US
    Journal title:Nature genetics, 2009-08, Vol.41 (8), p.891-898
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    Author / Creator:Willemsen, Marjolein H ; Vissers, Lisenka E L ; Willemsen, Michèl A A P ; van Bon, Bregje W M ; Kroes, Thessa ; de Ligt, Joep ; de Vries, Bert B ; Schoots, Jeroen ; Lugtenberg, Dorien ; Hamel, Ben C J ; van Bokhoven, Hans ; Brunner, Han G ; Veltman, Joris A ; Kleefstra, Tjitske
    Publisher:London: BMJ Publishing Group Ltd
    Journal title:Journal of medical genetics, 2012-03, Vol.49 (3), p.179-183
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    Author / Creator:Zimoń, Magdalena ; Baets, Jonathan ; Almeida-Souza, Leonardo ; De Vriendt, Els ; Nikodinovic, Jelena ; Parman, Yesim ; Battaloǧlu, Esra ; Matur, Zeliha ; Guergueltcheva, Velina ; Tournev, Ivailo ; Auer-Grumbach, Michaela ; De Rijk, Peter ; Petersen, Britt-Sabina ; Müller, Thomas ; Fransen, Erik ; Van Damme, Philip ; Löscher, Wolfgang N ; Barišić, Nina ; Mitrovic, Zoran ; Previtali, Stefano C ; Topaloǧlu, Haluk ; Bernert, Günther ; Beleza-Meireles, Ana ; Todorovic, Slobodanka ; Savic-Pavicevic, Dusanka ; Ishpekova, Boryana ; Lechner, Silvia ; Peeters, Kristien ; Ooms, Tinne ; Hahn, Angelika F ; Züchner, Stephan ; Timmerman, Vincent ; Van Dijck, Patrick ; Rasic, Vedrana Milic ; Janecke, Andreas R ; De Jonghe, Peter ; Jordanova, Albena
    Publisher:New York: Nature Publishing Group US
    Journal title:Nature genetics, 2012-10, Vol.44 (10), p.1080-1083
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    Author / Creator:Nagy, Stanislav ; Maurer, Gianna W. ; Hentze, Julie L. ; Rose, Morten ; Werge, Thomas M. ; Rewitz, Kim
    Publisher:United States: Public Library of Science
    Journal title:PLoS genetics, 2018-12, Vol.14 (12), p.e1007623-e1007623
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    Author / Creator:Salviati, Leonardo ; Trevisson, Eva ; Rodriguez Hernandez, Maria Angeles ; Casarin, Alberto ; Pertegato, Vanessa ; Doimo, Mara ; Cassina, Matteo ; Agosto, Caterina ; Desbats, Maria Andrea ; Sartori, Geppo ; Sacconi, Sabrina ; Memo, Luigi ; Zuffardi, Orsetta ; Artuch, Rafael ; Quinzii, Catarina ; DiMauro, Salvatore ; Hirano, Michio ; Santos-Ocaña, Carlos ; Navas, Plácido
    Publisher:England: BMJ Publishing Group Ltd
    Journal title:Journal of medical genetics, 2012-03, Vol.49 (3), p.187-191
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    Author / Creator:Pecci, Alessandro ; Biino, Ginevra ; Fierro, Tiziana ; Bozzi, Valeria ; Mezzasoma, Annamaria ; Noris, Patrizia ; Ramenghi, Ugo ; Loffredo, Giuseppe ; Fabris, Fabrizio ; Momi, Stefania ; Magrini, Umberto ; Pirastu, Mario ; Savoia, Anna ; Balduini, Carlo ; Gresele, Paolo
    Publisher:United States: Public Library of Science
    Journal title:PloS one, 2012-04, Vol.7 (4), p.e35986-e35986
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    Author / Creator:Tan, Hu ; Chen, Xin ; Lv, Weigang ; Linpeng, Siyuan ; Liang, Desheng ; Wu, Lingqian
    Publisher:England: Nature Publishing Group
    Journal title:Journal of human genetics, 2018-07, Vol.63 (7), p.851-855
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    Author / Creator:Wang, Yingli ; Zhou, Xueyan ; Oberoi, Kurun ; Phelps, Robert ; Couwenhoven, Ross ; Sun, Miao ; Rezza, Amélie ; Holmes, Greg ; Percival, Christopher J. ; Friedenthal, Jenna ; Krejci, Pavel ; Richtsmeier, Joan T. ; Huso, David L. ; Rendl, Michael ; Jabs, Ethylin Wang
    Publisher:United States: American Society for Clinical Investigation
    Journal title:The Journal of clinical investigation, 2012-06, Vol.122 (6), p.2153-2164
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    Author / Creator:Qian, Yi ; Flanagan-Steet, Heather ; van Meel, Eline ; Steet, Richard ; Kornfeld, Stuart A.
    Publisher:United States: National Academy of Sciences
    Journal title:Proceedings of the National Academy of Sciences - PNAS, 2013-06, Vol.110 (25), p.10246-10251
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    Author / Creator:Laugel-Haushalter, Virginie ; Paschaki, Marie ; Marangoni, Pauline ; Pilgram, Coralie ; Langer, Arnaud ; Kuntz, Thibaut ; Demassue, Julie ; Morkmued, Supawich ; Choquet, Philippe ; Constantinesco, André ; Bornert, Fabien ; Schmittbuhl, Matthieu ; Pannetier, Solange ; Viriot, Laurent ; Hanauer, André ; Dollé, Pascal ; Bloch-Zupan, Agnès
    Publisher:United States: Public Library of Science
    Journal title:PloS one, 2014-01, Vol.9 (1), p.e84343-e84343
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    Author / Creator:Lieber, Daniel S ; Hershman, Steven G ; Slate, Nancy G ; Calvo, Sarah E ; Sims, Katherine B ; Schmahmann, Jeremy D ; Mootha, Vamsi K
    Publisher:England: BioMed Central
    Journal title:BMC genetics, 2014-03, Vol.15 (1), p.30-30, Article 30
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    Author / Creator:Willer, Tobias ; Prados, Belén ; Falcón-Pérez, Juan Manuel ; Renner-Müller, Ingrid ; Gerhard K. H. Przemeck ; Lommel, Mark ; Coloma, Antonio ; Valero, M. Carmen ; de Angelis, Martin Hrabé ; Tanner, Widmar ; Wolf, Eckhard ; Strahl, Sabine ; Cruces, Jesús ; Schekman, Randy
    Publisher:United States: National Academy of Sciences
    Journal title:Proceedings of the National Academy of Sciences - PNAS, 2004-09, Vol.101 (39), p.14126-14131
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    Author / Creator:Uetani, Noriko ; Bertozzi, Kristen ; Chagnon, Melanie J. ; Hendriks, Wiljan ; Tremblay, Michel L. ; Bouchard, Maxime
    Publisher:United States: American Society for Clinical Investigation
    Journal title:The Journal of clinical investigation, 2009-04, Vol.119 (4), p.924-935
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    Author / Creator:Aeby, A ; Sznajer, Y ; Cavé, H ; Rebuffat, E ; Van Coster, R ; Rigal, O ; Van Bogaert, P
    Publisher:Dordrecht: Dordrecht : Springer Netherlands
    Journal title:Journal of inherited metabolic disease, 2007-10, Vol.30 (5), p.827-827
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    Author / Creator:Leao-Teles, Elisa ; Quelhas, Dulce ; Vilarinho, Laura ; Jaeken, Jaak
    Publisher:England: Nature Publishing Group
    Journal title:European journal of human genetics : EJHG, 2010-05, Vol.18 (5), p.526-526
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    Author / Creator:Hanauer, A ; Young, I D
    Publisher:London: BMJ Publishing Group Ltd
    Journal title:Journal of medical genetics, 2002-10, Vol.39 (10), p.705-713
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