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NeuroImage, ISSN 1053-8119, 11/2013, Volume 81, pp. 455 - 469
Journal Article
Nature Protocols, ISSN 1754-2189, 06/2015, Volume 10, Issue 6, pp. 845 - 858
Phyre2 is a suite of tools available on the web to predict and analyze protein structure, function and mutations. The focus of Phyre2 is to provide biologists... 
SITES | DATABASE | RESIDUES | BIOCHEMICAL RESEARCH METHODS | Models, Molecular | Protein Conformation | Software | Internet | Computational Biology | Web portals | Proteins | Usage | Models | Structure | Index Medicus | homology modelling | protein modelling server | nsSNPs | CASP | disease variants | structural bioinformatics | protein structure prediction | poing | protein modelling | phyre2
Journal Article
by Davies, Gail and Armstrong, Nicola J and Bis, Joshua and Bressler, Jan and Chouraki, Vincent and Giddaluru, Sudheer and Hofer, E and Ibrahim-Verbaas, Carla and Kirin, Mirna and Lahti, J and Lee, Sven and Le Hellard, Stephanie and Liu, T and Marioni, Riccardo and Oldmeadow, Christopher and Postmus, Douwe and Smith, G.D and Smith, Jennifer A and Thalamuthu, Anbupalam and Thomson, Russell and Vitart, Veronique and Wang, J and Yu, L and Zgaga, Lina and Zhao, Wei and Boxall, Ruth and Harris, Sarah and Hill, W. David and Liewald, David C and Luciano, Michelle and Adams, Hieab and Ames, David and Amin, Najaf and Amouyel, Philippe and Assareh, A.A and Au, R and Becker, James and Beiser, A and Berr, Claudine and Bertram, Lars and Boerwinkle, Eric and Buckley, Brendan M and Campbell, Harry and Corley, J and De Jager, P.L and Dufouil, Carole and Eriksson, Johan G and Espeseth, Thomas and Faul, J.D and Ford, I and Scotland, Generation and Gottesman, Rebecca and Griswold, Michael and Gudnason, Vilmundur and Harris, T.B and Heiss, Gerardo and Hofman, Albert and Holliday, Elizabeth and Huffman, Jennifer and Kardia, Sharon and Kochan, Nicole A and Knopman, David and Kwok, J.B and Lambert, J.-C and Lee, T and Li, G and Li, S.-C and Loitfelder, Marisa and Lopez, Oscar and Lundervold, A.J and Lundqvist, A and Mather, R and Mirza, Saira and Nyberg, L and Oostra, Ben and Palotie, Aarno and Papenberg, G and Pattie, Alison and Petrovic, Katja and Polasek, Ozren and Psaty, Bruce and Redmond, Paul and Reppermund, S and Rotter, J.I and Schmidt, Reinhold and Schuur, Maaike and Schofield, P.W and Scott, R.J and Steen, Vidar and Stott, David J and Swieten, John and Taylor, Kent and Trollor, J and Trompet, Stella and Uitterlinden, Ané and Weinstein, G and Widen, Elisabeth and Windham, B Gwen and Jukema, Jan Wouter and Wright, Alan and ... and Generation Scotland and Stockholms universitet and Centrum för forskning om äldre och åldrande (ARC), (tills m KI) and Samhällsvetenskapliga fakulteten
Molecular Psychiatry, ISSN 1359-4184, 01/2015, Volume 20, Issue 2, pp. 183 - 192
Journal Article
Journal Article
Medicine (United States), ISSN 0025-7974, 2019, Volume 98, Issue 13, pp. e14974 - e14974
Previous research identified SCN1B variants in some cases of Dravet syndrome (DS). We investigated whether SCN1B and SCN2B variants are commonly happened in DS... 
Variant | SCN1B | Dravet syndrome | SCN2B | MISSENSE | ILAE COMMISSION | CLASSIFICATION | dravet syndrome | FEBRILE SEIZURES | MEDICINE, GENERAL & INTERNAL | EXCITABILITY | MUTATION | variant | POSITION PAPER | EPILEPSY | SUBUNIT | Sodium channels | Genetic aspects | Genetic variation | Health aspects | Identification and classification | Epilepsy | Index Medicus | Abridged Index Medicus
Journal Article
Nature, ISSN 0028-0836, 2016, Volume 536, Issue 7616, pp. 285 - 291
Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe... 
HUMAN-DISEASE | EVOLUTION | MULTIDISCIPLINARY SCIENCES | MUTATION | GUIDELINES | FRAMEWORK | SEQUENCE VARIANTS | NETWORKS | DISCOVERY | HUMAN-POPULATION HISTORY | Genetic aspects | Research | Man | Human beings | Genetic variation | Analysis | Datasets | Proteins | Disease | Genes | Principal components analysis | Genetics | Genomes | Data bases | Index Medicus
Journal Article
by Ardlie, Kristin G and DeLuca, David S and Segrè, Ayellet V and Sullivan, Timothy J and Young, Taylor R and Gelfand, Ellen T and Trowbridge, Casandra A and Maller, Julian B and Tukiainen, Taru and Lek, Monkol and Ward, Lucas D and Kheradpour, Pouya and Iriarte, Benjamin and Meng, Yan and Palmer, Cameron D and Esko, Tõnu and Winckler, Wendy and Hirschhorn, Joel N and Kellis, Manolis and MacArthur, Daniel G and Getz, Gad and Shabalin, Andrey A and Li, Gen and Zhou, Yi-Hui and Nobel, Andrew B and Rusyn, Ivan and Wright, Fred A and Lappalainen, Tuuli and Ferreira, Pedro G and Ongen, Halit and Rivas, Manuel A and Battle, Alexis and Mostafavi, Sara and Monlong, Jean and Sammeth, Michael and Melé, Marta and Reverter, Ferran and Goldmann, Jakob M and Koller, Daphne and Guigó, Roderic and McCarthy, Mark I and Dermitzakis, Emmanouil T and Gamazon, Eric R and Im, Hae Kyung and Konkashbaev, Anuar and Nicolae, Dan L and Cox, Nancy J and Flutre, Timothée and Wen, Xiaoquan and Stephens, Matthew and Pritchard, Jonathan K and Tu, Zhidong and Zhang, Bin and Huang, Tao and Long, Quan and Lin, Luan and Yang, Jialiang and Zhu, Jun and Liu, Jun and Brown, Amanda and Mestichelli, Bernadette and Tidwell, Denee and Lo, Edmund and Salvatore, Michael and Shad, Saboor and Thomas, Jeffrey A and Lonsdale, John T and Moser, Michael T and Gillard, Bryan M and Karasik, Ellen and Ramsey, Kimberly and Choi, Christopher and Foster, Barbara A and Syron, John and Fleming, Johnell and Magazine, Harold and Hasz, Rick and Walters, Gary D and Bridge, Jason P and Miklos, Mark and Sullivan, Susan and Barker, Laura K and Traino, Heather M and Mosavel, Maghboeba and Siminoff, Laura A and Valley, Dana R and Rohrer, Daniel C and Jewell, Scott D and Branton, Philip A and Sobin, Leslie H and Barcus, Mary and Qi, Liqun and McLean, Jeffrey and Hariharan, Pushpa and Um, Ki Sung and Wu, Shenpei and Tabor, David and Shive, Charles and Smith, Anna M and Buia, Stephen A and ... and GTEx Consortium and The GTEx Consortium
Science, ISSN 0036-8075, 05/2015, Volume 348, Issue 6235, pp. 648 - 660
Journal Article