2,594 results for recessive+mutations

2,594 results for recessive+mutations

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    Author / Creator:Benson, D. Woodrow ; Wang, Dao W. ; Dyment, Macaira ; Knilans, Timothy K. ; Fish, Frank A. ; Strieper, Margaret J. ; Rhodes, Thomas H. ; George, Alfred L.
    Journal title:The Journal of clinical investigation, 2003-10, Vol.112 (7), p.1019-1028
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    Author / Creator:Simancas-Escorcia, Victor ; Berdal, Ariane ; Díaz-Caballero, Antonio
    Publisher:Santa Marta: Universidad del Magdalena, Revistas de la Universidad del Magdalena
    Journal title:Duazary, 2019-01, Vol.16 (1), p.129-143
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    Author / Creator:Vu, Mylinh ; Li, Rong ; Baskfield, Amanda ; Lu, Billy ; Farkhondeh, Atena ; Gorshkov, Kirill ; Motabar, Omid ; Beers, Jeanette ; Chen, Guokai ; Zou, Jizhong ; Espejo-Mojica, Angela J. ; Rodríguez-López, Alexander ; Alméciga-Díaz, Carlos J. ; Barrera, Luis A. ; Jiang, Xuntian ; Ory, Daniel S. ; Marugan, Juan J. ; Zheng, Wei
    Publisher:England: BioMed Central Ltd
    Journal title:Orphanet journal of rare diseases, 2018-09, Vol.13 (1), p.152-152, Article 152
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    Author / Creator:Lorenzon, Alessandra, PhD ; Pilichou, Kalliopi, PhD ; Rigato, Ilaria, PhD ; Vazza, Giovanni, PhD ; De Bortoli, Marzia, PhD ; Calore, Martina, PhD ; Occhi, Gianluca, PhD ; Carturan, Elisa, PhD ; Lazzarini, Elisabetta, PhD ; Cason, Marco, BSc ; Mazzotti, Elisa, PhD ; Poloni, Giulia, BSc ; Mostacciuolo, Maria Luisa, BSc ; Daliento, Luciano, MD ; Thiene, Gaetano, MD ; Corrado, Domenico, PhD ; Basso, Cristina, PhD ; Bauce, Barbara, PhD ; Rampazzo, Alessandra, PhD
    Publisher:United States: Elsevier Inc
    Journal title:The American journal of cardiology, 2015-10, Vol.116 (8), p.1245-1251
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    Author / Creator:Lemaire, Mathieu ; Frémeaux-Bacchi, Véronique ; Schaefer, Franz ; Choi, Murim ; Tang, Wai Ho ; Le Quintrec, Moglie ; Fakhouri, Fadi ; Taque, Sophie ; Nobili, François ; Martinez, Frank ; Ji, Weizhen ; Overton, John D ; Mane, Shrikant M ; Nürnberg, Gudrun ; Altmüller, Janine ; Thiele, Holger ; Morin, Denis ; Deschenes, Georges ; Baudouin, Véronique ; Llanas, Brigitte ; Collard, Laure ; Majid, Mohammed A ; Simkova, Eva ; Nürnberg, Peter ; Rioux-Leclerc, Nathalie ; Moeckel, Gilbert W ; Gubler, Marie Claire ; Hwa, John ; Loirat, Chantal ; Lifton, Richard P
    Publisher:New York: Nature Publishing Group US
    Journal title:Nature genetics, 2013-05, Vol.45 (5), p.531-536
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    Author / Creator:Weedon, Michael N ; Cebola, Inês ; Patch, Ann-Marie ; Flanagan, Sarah E ; De Franco, Elisa ; Caswell, Richard ; Rodríguez-Seguí, Santiago A ; Shaw-Smith, Charles ; Cho, Candy H-H ; Allen, Hana Lango ; Houghton, Jayne A L ; Roth, Christian L ; Chen, Rongrong ; Hussain, Khalid ; Marsh, Phil ; Vallier, Ludovic ; Murray, Anna ; Ellard, Sian ; Ferrer, Jorge ; Hattersley, Andrew T
    Publisher:New York: Nature Publishing Group US
    Journal title:Nature genetics, 2014-01, Vol.46 (1), p.61-64
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    Author / Creator:Saisawat, Pawaree ; Kohl, Stefan ; Hilger, Alina C. ; Hwang, Daw-Yang ; Yung Gee, Heon ; Dworschak, Gabriel C. ; Tasic, Velibor ; Pennimpede, Tracie ; Natarajan, Sivakumar ; Sperry, Ethan ; Matassa, Danilo S. ; Stajić, Nataša ; Bogdanovic, Radovan ; de Blaauw, Ivo ; Marcelis, Carlo L.M. ; Wijers, Charlotte H.W. ; Bartels, Enrika ; Schmiedeke, Eberhard ; Schmidt, Dominik ; Märzheuser, Stefanie ; Grasshoff-Derr, Sabine ; Holland-Cunz, Stefan ; Ludwig, Michael ; Nöthen, Markus M. ; Draaken, Markus ; Brosens, Erwin ; Heij, Hugo ; Tibboel, Dick ; Herrmann, Bernhard G. ; Solomon, Benjamin D. ; de Klein, Annelies ; van Rooij, Iris A.L.M. ; Esposito, Franca ; Reutter, Heiko M. ; Hildebrandt, Friedhelm
    Publisher:United States: Elsevier Inc
    Journal title:Kidney international, 2014-06, Vol.85 (6), p.1310-1317
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    Author / Creator:Cullup, Thomas ; Kho, Ay Lin ; Dionisi-Vici, Carlo ; Brandmeier, Birgit ; Smith, Frances ; Urry, Zoe ; Simpson, Michael A ; Yau, Shu ; Bertini, Enrico ; McClelland, Verity ; Al-Owain, Mohammed ; Koelker, Stefan ; Koerner, Christian ; Hoffmann, Georg F ; Wijburg, Frits A ; Hoedt, Amber E ten ; Rogers, R Curtis ; Manchester, David ; Miyata, Rie ; Hayashi, Masaharu ; Said, Elizabeth ; Soler, Doriette ; Kroisel, Peter M ; Windpassinger, Christian ; Filloux, Francis M ; Al-Kaabi, Salwa ; Hertecant, Jozef ; Del Campo, Miguel ; Buk, Stefan ; Bodi, Istvan ; Goebel, Hans-Hilmar ; Sewry, Caroline A ; Abbs, Stephen ; Mohammed, Shehla ; Josifova, Dragana ; Gautel, Mathias ; Jungbluth, Heinz
    Publisher:New York: Nature Publishing Group US
    Journal title:Nature genetics, 2013-01, Vol.45 (1), p.83-87
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    Author / Creator:Thiffault, Isabelle ; Wolf, Nicole I. ; Forget, Diane ; Guerrero, Kether ; Tran, Luan T. ; Choquet, Karine ; Lavallée-Adam, Mathieu ; Poitras, Christian ; Brais, Bernard ; Yoon, Grace ; Sztriha, Laszlo ; Webster, Richard I. ; Timmann, Dagmar ; van de Warrenburg, Bart P. ; Seeger, Jürgen ; Zimmermann, Alíz ; Máté, Adrienn ; Goizet, Cyril ; Fung, Eva ; van der Knaap, Marjo S. ; Fribourg, Sébastien ; Vanderver, Adeline ; Simons, Cas ; Taft, Ryan J. ; Yates III, John R. ; Coulombe, Benoit ; Bernard, Geneviève
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature communications, 2015-07, Vol.6 (1), p.7623-7623, Article 7623
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    Author / Creator:Wang, Dan ; Li, Jia ; Song, Chun-Qing ; Tran, Karen ; Mou, Haiwei ; Wu, Pei-Hsuan ; Tai, Phillip W L ; Mendonca, Craig A ; Ren, Lingzhi ; Wang, Blake Y ; Su, Qin ; Gessler, Dominic J ; Zamore, Phillip D ; Xue, Wen ; Gao, Guangping
    Publisher:New York: Nature Publishing Group US
    Journal title:Nature biotechnology, 2018-10, Vol.36 (9), p.839-842
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    Author / Creator:Monies, Dorota ; Maddirevula, Sateesh ; Kurdi, Wesam ; Alanazy, Mohammed H. ; Alkhalidi, Hisham ; Al-Owain, Mohammed ; Sulaiman, Raashda A. ; Faqeih, Eissa ; Goljan, Ewa ; Ibrahim, Niema ; Abdulwahab, Firdous ; Hashem, Mais ; Abouelhoda, Mohamed ; Shaheen, Ranad ; Arold, Stefan T. ; Alkuraya, Fowzan S.
    Publisher:New York: Nature Publishing Group US
    Journal title:Genetics in medicine, 2017-10, Vol.19 (10), p.1144-1150
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    Author / Creator:Estañ, María Cristina ; Fernández-Núñez, Elisa ; Zaki, Maha S. ; Esteban, María Isabel ; Donkervoort, Sandra ; Hawkins, Cynthia ; Caparros-Martin, José A. ; Saade, Dimah ; Hu, Ying ; Bolduc, Véronique ; Chao, Katherine Ru-Yui ; Nevado, Julián ; Lamuedra, Ana ; Largo, Raquel ; Herrero-Beaumont, Gabriel ; Regadera, Javier ; Hernandez-Chico, Concepción ; Tizzano, Eduardo F. ; Martinez-Glez, Victor ; Carvajal, Jaime J. ; Zong, Ruiting ; Nelson, David L. ; Otaify, Ghada A. ; Temtamy, Samia ; Aglan, Mona ; Issa, Mahmoud ; Bönnemann, Carsten G. ; Lapunzina, Pablo ; Yoon, Grace ; Ruiz-Perez, Victor L.
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature communications, 2019-02, Vol.10 (1), p.797-797, Article 797
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    Author / Creator:Li, Ruiqi ; Mei, Mei ; Zhou, Ling ; Zhao, Haijing ; Yang, Min ; Li, Yingshi ; Chen, Xiaoli ; Wang, Wenjun ; Yuan, Ping
    Publisher:United States: John Wiley & Sons, Inc
    Journal title:Human mutation, 2024, Vol.2024 (1), p.9278518
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    Author / Creator:Hashimoto-Sugimoto, Mimi ; Negi, Juntaro ; Monda, Keina ; Higaki, Takumi ; Isogai, Yasuhiro ; Nakano, Toshiaki ; Hasezawa, Seiichiro ; Iba, Koh
    Publisher:England: Oxford University Press
    Journal title:Journal of experimental botany, 2016-05, Vol.67 (11), p.3251-3261
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    Author / Creator:Garin, Intza ; Edghill, Emma L ; Akerman, Ildem ; Rubio-Cabezas, Oscar ; Rica, Itxaso ; Locke, Jonathan M ; Maestro, Miguel Angel ; Alshaikh, Adnan ; Bundak, Ruveyde ; del Castillo, Gabriel ; Deeb, Asma ; Deiss, Dorothee ; Fernandez, Juan M ; Godbole, Koumudi ; Hussain, Khalid ; O'Connell, Michele ; Klupa, Thomasz ; Kolouskova, Stanislava ; Mohsin, Fauzia ; Perlman, Kusiel ; Sumnik, Zdenek ; Rial, Jose M ; Ugarte, Estibaliz ; Vasanthi, Thiruvengadam ; Johnstone, Karen ; Flanagan, Sarah E ; Martínez, Rosa ; Castaño, Carlos ; Patch, Ann-Marie ; Fernández-Rebollo, Eduardo ; Raile, Klemens ; Morgan, Noel ; Harries, Lorna W ; Castaño, Luis ; Ellard, Sian ; Ferrer, Jorge ; de Nanclares, Guiomar Perez ; Hattersley, Andrew T
    Publisher:United States: National Academy of Sciences
    Journal title:Proceedings of the National Academy of Sciences - PNAS, 2010-02, Vol.107 (7), p.3105-3110
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    Author / Creator:Lise, Stefano ; Clarkson, Yvonne ; Perkins, Emma ; Kwasniewska, Alexandra ; Sadighi Akha, Elham ; Parolin Schnekenberg, Ricardo ; Suminaite, Daumante ; Hope, Jilly ; Baker, Ian ; Gregory, Lorna ; Green, Angie ; Allan, Chris ; Lamble, Sarah ; Jayawant, Sandeep ; Quaghebeur, Gerardine ; Cader, M. Zameel ; Hughes, Sarah ; Armstrong, Richard J. E. ; Kanapin, Alexander ; Rimmer, Andrew ; Lunter, Gerton ; Mathieson, Iain ; Cazier, Jean-Baptiste ; Buck, David ; Taylor, Jenny C. ; Bentley, David ; McVean, Gilean ; Donnelly, Peter ; Knight, Samantha J. L. ; Jackson, Mandy ; Ragoussis, Jiannis ; Németh, Andrea H.
    Publisher:United States: Public Library of Science
    Journal title:PLoS genetics, 2012-12, Vol.8 (12), p.e1003074-e1003074
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    Author / Creator:Seidahmed, Mohammed Zain ; Al-Kindi, Adila ; Alsaif, Hessa S. ; Miqdad, Abeer ; Alabbad, Nasser ; Alfifi, Abdallah ; Abdelbasit, Omer Bashir ; Alhussein, Khalid ; Alsamadi, Abdulmohsen ; Ibrahim, Niema ; Al-Futaisi, Amna ; Al-Maawali, Almundher ; Alkuraya, Fowzan S.
    Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
    Journal title:Human genetics, 2020-04, Vol.139 (4), p.513-519
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    Author / Creator:Glemin, Sylvain
    Publisher:United States: Society for the Study of Evolution
    Journal title:Evolution, 2003-12, Vol.57 (12), p.2678-2687
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