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Mutational Robustness of Ribosomal Protein Genes
Lind, Peter A, Berg, Otto G, Andersson, Dan I
Published in Science (American Association for the Advancement of Science) (05.11.2010)
Published in Science (American Association for the Advancement of Science) (05.11.2010)
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Unique and atypical deletions in Prader–Willi syndrome reveal distinct phenotypes
Kim, Soo-Jeong, Miller, Jennifer L, Kuipers, Paul J, German, Jennifer Ruth, Beaudet, Arthur L, Sahoo, Trilochan, Driscoll, Daniel J
Published in European journal of human genetics : EJHG (01.03.2012)
Published in European journal of human genetics : EJHG (01.03.2012)
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impact of paternity on male–infant association in a primate with low paternity certainty
Langos, Doreen, Kulik, Lars, Mundry, Roger, Widdig, Anja
Published in Molecular ecology (01.07.2013)
Published in Molecular ecology (01.07.2013)
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Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform
Lim, Byung Chan, Lee, Seungbok, Shin, Jong-Yeon, Kim, Jong-Il, Hwang, Hee, Kim, Ki Joong, Hwang, Yong Seung, Seo, Jeong-Sun, Chae, Jong Hee
Published in Journal of medical genetics (01.11.2011)
Published in Journal of medical genetics (01.11.2011)
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DNA methylation alterations in response to pesticide exposure in vitro
Zhang, Xiao, Wallace, Andrew D., Du, Pan, Kibbe, Warren A., Jafari, Nadereh, Xie, Hehuang, Lin, Simon, Baccarelli, Andrea, Soares, Marcelo Bento, Hou, Lifang
Published in Environmental and molecular mutagenesis (01.08.2012)
Published in Environmental and molecular mutagenesis (01.08.2012)
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A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis
Witt, Heiko, Sahin-Tóth, Miklós, Landt, Olfert, Chen, Jian-Min, Kähne, Thilo, Drenth, Joost PH, Kukor, Zoltán, Szepessy, Edit, Halangk, Walter, Dahm, Stefan, Rohde, Klaus, Schulz, Hans-Ulrich, Le Maréchal, Cédric, Akar, Nejat, Ammann, Rudolf W, Truninger, Kaspar, Bargetzi, Mario, Bhatia, Eesh, Castellani, Carlo, Cavestro, Giulia Martina, Cerny, Milos, Destro-Bisol, Giovanni, Spedini, Gabriella, Eiberg, Hans, Jansen, Jan B M J, Koudova, Monika, Rausova, Eva, Macek, Milan, Malats, Núria, Real, Francisco X, Menzel, Hans-Jürgen, Moral, Pedro, Galavotti, Roberta, Pignatti, Pier Franco, Rickards, Olga, Spicak, Julius, Zarnescu, Narcis Octavian, Böck, Wolfgang, Gress, Thomas M, Friess, Helmut, Ockenga, Johann, Schmidt, Hartmut, Pfützer, Roland, Löhr, Matthias, Simon, Peter, Weiss, Frank Ulrich, Lerch, Markus M, Teich, Niels, Keim, Volker, Berg, Thomas, Wiedenmann, Bertram, Luck, Werner, Groneberg, David Alexander, Becker, Michael, Keil, Thomas, Kage, Andreas, Bernardova, Jana, Braun, Markus, Güldner, Claudia, Halangk, Juliane, Rosendahl, Jonas, Witt, Ulrike, Treiber, Matthias, Nickel, Renate, Férec, Claude
Published in Nature genetics (01.06.2006)
Published in Nature genetics (01.06.2006)
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Functional Gene Group Analysis Reveals a Role of Synaptic Heterotrimeric G Proteins in Cognitive Ability
Ruano, Dina, Abecasis, Gonçalo R., Glaser, Beate, Lips, Esther S., Cornelisse, L. Niels, de Jong, Arthur P.H., Evans, David M., Smith, George Davey, Timpson, Nicolas J., Smit, August B., Heutink, Peter, Verhage, Matthijs, Posthuma, Danielle
Published in American journal of human genetics (12.02.2010)
Published in American journal of human genetics (12.02.2010)
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Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications
Liu, Pengfei, Erez, Ayelet, Sreenath Nagamani, Sandesh C., Bi, Weimin, Carvalho, Claudia M. B., Simmons, Alexandra D., Wiszniewska, Joanna, Fang, Ping, Eng, Patricia A., Cooper, M. Lance, Sutton, V. Reid, Roeder, Elizabeth R., Bodensteiner, John B., Delgado, Mauricio R., Prakash, Siddharth K., Belmont, John W., Stankiewicz, Pawel, Berg, Jonathan S., Shinawi, Marwan, Patel, Ankita, Cheung, Sau Wai, Lupski, James R.
Published in Human molecular genetics (15.05.2011)
Published in Human molecular genetics (15.05.2011)
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XX males SRY negative: a confirmed cause of infertility
Vetro, Annalisa, Ciccone, Roberto, Giorda, Roberto, Patricelli, Maria Grazia, Della Mina, Erika, Forlino, Antonella, Zuffardi, Orsetta
Published in Journal of medical genetics (01.10.2011)
Published in Journal of medical genetics (01.10.2011)
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Genome-wide Association of Copy-Number Variation Reveals an Association between Short Stature and the Presence of Low-Frequency Genomic Deletions
Dauber, Andrew, Yu, Yongguo, Turchin, Michael C., Chiang, Charleston W., Meng, Yan A., Demerath, Ellen W., Patel, Sanjay R., Rich, Stephen S., Rotter, Jerome I., Schreiner, Pamela J., Wilson, James G., Shen, Yiping, Wu, Bai-Lin, Hirschhorn, Joel N.
Published in American journal of human genetics (09.12.2011)
Published in American journal of human genetics (09.12.2011)
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Mutations in TMEM231 cause Joubert syndrome in French Canadians
Srour, Myriam, Hamdan, Fadi F, Schwartzentruber, Jeremy A, Patry, Lysanne, Ospina, Luis H, Shevell, Michael I, Désilets, Valérie, Dobrzeniecka, Sylvia, Mathonnet, Géraldine, Lemyre, Emmanuelle, Massicotte, Christine, Labuda, Damian, Amrom, Dina, Andermann, Eva, Sébire, Guillaume, Maranda, Bruno, Consortium, FORGE Canada, Rouleau, Guy A, Majewski, Jacek, Michaud, Jacques L
Published in Journal of medical genetics (01.10.2012)
Published in Journal of medical genetics (01.10.2012)
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Nitric-Oxide Supplementation for Treatment of Long-Term Complications in Argininosuccinic Aciduria
Nagamani, Sandesh C.S., Campeau, Philippe M., Shchelochkov, Oleg A., Premkumar, Muralidhar H., Guse, Kilian, Brunetti-Pierri, Nicola, Chen, Yuqing, Sun, Qin, Tang, Yaoping, Palmer, Donna, Reddy, Anilkumar K., Li, Li, Slesnick, Timothy C., Feig, Daniel I., Caudle, Susan, Harrison, David, Salviati, Leonardo, Marini, Juan C., Bryan, Nathan S., Erez, Ayelet, Lee, Brendan
Published in American journal of human genetics (04.05.2012)
Published in American journal of human genetics (04.05.2012)
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Widespread horizontal transfer of mitochondrial genes in flowering plants
Bergthorsson, Ulfar, Adams, Keith L., Thomason, Brendan, Palmer, Jeffrey D.
Published in Nature (London) (10.07.2003)
Published in Nature (London) (10.07.2003)
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Evolutionary origin and development of snake fangs
Vonk, Freek J., Admiraal, Jeroen F., Jackson, Kate, Reshef, Ram, de Bakker, Merijn A. G., Vanderschoot, Kim, van den Berge, Iris, van Atten, Marit, Burgerhout, Erik, Beck, Andrew, Mirtschin, Peter J., Kochva, Elazar, Witte, Frans, Fry, Bryan G., Woods, Anthony E., Richardson, Michael K.
Published in Nature (London) (31.07.2008)
Published in Nature (London) (31.07.2008)
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Coevolution in multidimensional trait space favours escape from parasites and pathogens
Gilman, R. Tucker, Nuismer, Scott L., Jhwueng, Dwueng-Chwuan
Published in Nature (London) (15.03.2012)
Published in Nature (London) (15.03.2012)
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Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves’ disease
Brand, Oliver J., Barrett, Jeffrey C., Simmonds, Matthew J., Newby, Paul R., McCabe, Christopher J., Bruce, Christopher K., Kysela, Boris, Carr-Smith, Jackie D., Brix, Thomas, Hunt, Penny J., Wiersinga, Wilmar M., Hegedüs, Laszlo, Connell, John, Wass, John A.H., Franklyn, Jayne A., Weetman, Anthony P., Heward, Joanne M., Gough, Stephen C.L.
Published in Human molecular genetics (01.05.2009)
Published in Human molecular genetics (01.05.2009)
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Association of Imaging Markers of Myocardial Fibrosis With Metabolic and Functional Disturbances in Early Diabetic Cardiomyopathy
Jellis, Christine, Wright, Jeremy, Kennedy, Dominic, Sacre, Julian, Jenkins, Carly, Haluska, Brian, Martin, Jennifer, Fenwick, John, Marwick, Thomas H.
Published in Circulation. Cardiovascular imaging (01.11.2011)
Published in Circulation. Cardiovascular imaging (01.11.2011)
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Break zones in the distributions of alleles and species in alpine plants
Thiel-Egenter, Conny, Alvarez, Nadir, Holderegger, Rolf, Tribsch, Andreas, Englisch, Thorsten, Wohlgemuth, Thomas, Colli, Licia, Gaudeul, Myriam, Gielly, Ludovic, Jogan, Nejc, Linder, Hans Peter, Negrini, Riccardo, Niklfeld, Harald, Pellecchia, Marco, Rioux, Delphine, Schönswetter, Peter, Taberlet, Pierre, van Loo, Marcela, Winkler, Manuela, Gugerli, Felix
Published in Journal of biogeography (01.04.2011)
Published in Journal of biogeography (01.04.2011)
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