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JOURNAL OF FLUORINE CHEMISTRY, ISSN 0022-1139, 12/2019, Volume 228
Journal Article
Journal of Fluorine Chemistry, ISSN 0022-1139, 12/2019, Volume 228, p. 109334
Journal Article
1994, Worlds of performance, ISBN 0415099358, xxv, 397
First published in 2004. Routledge is an imprint of Taylor & Francis, an informa company. 
Happening (Art) | Literature: Texts | Practice & Practitioners | Performance Genres | Performance Art | Theater | Happening | Teater | Happenings
Book
2003, ISBN 9780755311026, 370 p., [16] p. of plates
Book
by McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M and Bayzetinova, Tanya and Jones, Philip and Jones, Wendy D and King, Daniel and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, Lisa and Brady, Angela and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Clowes, Virginia and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collinson, Morag N and Connell, Fiona and Cooper, Nicola and Cox, Helen and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D'Alessandro, Mariella and Dabir, Tabib and Davidson, Rosemarie and Davies, Sally and De Vries, Dylan and Dean, John and Deshpande, Charu and Devlin, Gemma and Dixit, Abhijit and Dobbie, Angus and Donaldson, Alan and Donnai, Dian and Donnelly, Deirdre and Donnelly, Carina and Douglas, Angela and Douzgou, Sofia and Duncan, Alexis and Eason, Jacqueline and Ellard, Sian and Ellis, Ian and Elmslie, Frances and Evans, Karenza and Everest, Sarah and Fendick, Tina and Fisher, Richard and Flinter, Frances and Foulds, Nicola and Fry, Andrew and Fryer, Alan and Gardiner, Carol and Gaunt, Lorraine and Ghali, Neeti and ... and Deciphering Developmental Disorders Study
Nature, ISSN 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important... 
INTELLECTUAL DISABILITY | METAANALYSIS | VARIANTS | GENETICS | HEART-DEFECTS | MULTIDISCIPLINARY SCIENCES | GENES | SEQUENCE | FRAMEWORK | DISCOVERY | GENOME | Prevalence | Humans | Middle Aged | Parents | Male | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | Developmental Disabilities - genetics | Casein Kinase II - genetics | Autoantigens - genetics | Young Adult | ras GTPase-Activating Proteins - genetics | Adult | Female | Child | CDC2 Protein Kinase - genetics | Histone-Lysine N-Methyltransferase - genetics | Repressor Proteins - genetics | Sex Characteristics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Homeodomain Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Phenotype | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heredity - genetics | Protein Phosphatase 2C - genetics | Cohort Studies | Child development deviations | Genetic aspects | Genetic disorders | Developmental disabilities | Distribution | Genes | Families & family life | Births | Genomes | Mutation | Causality | Estimates | Age | TRIO | MYT1L | EHMT1 | HNRNPU | SUV420H1 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SCN1A | MEF2C | CDKL5 | CSNK2A1 | DYRK1A | CASK | ALG13 | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | PhenIcons | SET | KMT2A | ANKRD11 | STXBP1 | FOXG1 | ZC4H2 | ITPR1 | De novo mutation | Seizures | ZBTB18 | CREBBP | SMAD4 | PDHA1 | IQSEC2 | AUTS2 | BCL11A | BRAF | SMARCA2 | GRIN2B | MED13L | GNAO1 | CNOT3 | TCF4 | SCN2A | CDK13 | GABRB3 | SETD5 | KDM5B | Developmental Disease | DDX3X | CHD8 | PTEN | CHD4 | TCF20 | CTCF | CHD2 | WDR45 | SLC6A1 | MECP2 | CHAMP1 | KIF1A | Average Faces | MSL3 | PPP2R5D | SMC1A | ARID1B | DNM1 | CNKSR2 | PACS1 | WAC | ZMYND11 | AHDC1 | NFIX | SATB2 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | Intellectual Disability | SLC35A2 | DYNC1H1 | NAA10 | USP9X | PTPN11 | GATAD2B | ASXL1 | KANSL1 | ASXL3 | CTNNB1 | QRICH1
Journal Article
by Carbone, Marco and Sharp, Stephen J and Flack, Steve and Paximadas, Dimitrios and Spiess, Kelly and Adgey, Carolyn and Griffiths, Laura and Lim, Reyna and Trembling, Paul and Williamson, Kate and Wareham, Nick J and Aldersley, Mark and Bathgate, Andrew and Burroughs, Andrew K and Heneghan, Michael A and Neuberger, James M and Thorburn, Douglas and Hirschfield, Gideon M and Cordell, Heather J and Alexander, Graeme J and Jones, David E.J and Sandford, Richard N and Mells, George F and Jones, David and Kirby, John and Hirschfield, Gideon and Alexander, Graeme and Sandford, Richard and Taylor‐Robinson, Simon and Ch'ng, Chin Lye and Rahman, Mesbah and Yapp, Tom and Sturgess, Richard and Healey, Christopher and Czajkowski, Marek and Gunasekera, Anton and Gyawali, Pranab and Premchand, Purushothaman and Kapur, Kapil and Marley, Richard and Foster, Graham and Watson, Alan and Dias, Aruna and Subhani, Javaid and Harvey, Rory and McCorry, Roger and Ramanaden, David and Gasem, Jaber and Evans, Richard and Mathialahan, Thiriloganathan and Shorrock, Christopher and Lipscomb, George and Southern, Paul and Tibble, Jeremy and Gorard, David and Palegwala, Altaf and Jones, Susan and Dawwas, Mohamed and Dolwani, Sunil and Prince, Martin and Foxton, Matthew and Elphick, David and Mitchison, Harriet and Gooding, Ian and Karmo, Mazn and Saksena, Sushma and Mendall, Mike and Patel, Minesh and Ede, Roland and Austin, Andrew and Sayer, Joanna and Hankey, Lorraine and Hovell, Christopher and Fisher, Neil and Carter, Martyn and Koss, Konrad and Piotrowicz, Andrzej and Grimley, Charles and Neal, David and Lim, Guan and Levi, Sass and Ala, Aftab and Broad, Andrea and Saeed, Athar and Wood, Gordon and Brown, Jonathan and Wilkinson, Mark and Gordon, Harriet and Ramage, John and Ridpath, Jo and Ngatchu, Theodore and Grover, Bob and Shaukat, Syed and Shidrawi, Ray and Abouda, George and Ali, Faiz and Rees, Ian and Salam, Imroz and Narain, Mark and Brown, Ashley and ... and UK-PBC Consortium
Hepatology, ISSN 0270-9139, 03/2016, Volume 63, Issue 3, pp. 930 - 950
Journal Article
Journal of Fluorine Chemistry, ISSN 0022-1139, 2005, Volume 126, Issue 4, pp. 422 - 423
Journal Article
by Cordell, Heather J and Han, Younghun and Mells, George F and Li, Yafang and Hirschfield, Gideon M and Greene, Casey S and Xie, Gang and Juran, Brian D and Zhu, Dakai and Qian, David C and Floyd, James A. B and Morley, Katherine I and Prati, Daniele and Lleo, Ana and Cusi, Daniele and Gershwin, M. Eric and Anderson, Carl A and Lazaridis, Konstantinos N and Invernizzi, Pietro and Seldin, Michael F and Sandford, Richard N and Amos, Christopher I and Siminovitch, Katherine A and Schlicht, Erik M and Lammert, Craig and Atkinson, Elizabeth J and Chan, Landon L and De Andrade, Mariza and Balschun, Tobias and Mason, Andrew L and Myers, Robert P and Zhang, Jinyi and Milkiewicz, Piotr and Qu, Jia and Odin, Joseph A and Luketic, Velimir A and Bacon, Bruce R and Bodenheimer, Henry C and Liakina, Valentina and Vincent, Catherine and Levy, Cynthia and Gregersen, Peter K and Almasio, Piero L and Alvaro, Domenico and Andreone, Pietro and Andriulli, Angelo and Barlassina, Cristina and Battezzati, Pier Maria and Benedetti, Antonio and Bernuzzi, Francesca and Bianchi, Ilaria and Bragazzi, Maria Consiglia and Brunetto, Maurizia and Bruno, Savino and Casella, Giovanni and Coco, Barbara and Colli, Agostino and Colombo, Massimo and Colombo, Silvia and Cursaro, Carmela and Crocè, Lory Saveria and Crosignani, Andrea and Donato, Maria Francesca and Elia, Gianfranco and Fabris, Luca and Ferrari, Carlo and Floreani, Annarosa and Foglieni, Barbara and Fontana, Rosanna and Galli, Andrea and Lazzari, Roberta and Macaluso, Fabio and Malinverno, Federica and Marra, Fabio and Marzioni, Marco and Mattalia, Alberto and Montanari, Renzo and Morini, Lorenzo and Morisco, Filomena and Mousa Hani, S and Muratori, Luigi and Muratori, Paolo and Niro, Grazia A and Palmieri, Vincenzo O and Picciotto, Antonio and Podda, Mauro and Portincasa, Piero and Ronca, Vincenzo and Rosina, Floriano and Rossi, Sonia and Sogno, Ilaria and Spinzi, Giancarlo and Spreafico, Marta and Strazzabosco, Mario and Tarallo, Sonia and Tarocchi, Mirko and Tiribelli, Claudio and Toniutto, Pierluigi and Vinci, Maria and Zuin, Massimo and ... and Canadian-US PBC Consortium and Italian PBC Genetics Study Grp and UK-PBC Consortium and Italian PBC Genetics Study Group
Nature Communications, ISSN 2041-1723, 09/2015, Volume 6, Issue 1, p. 8019
Primary biliary cirrhosis (PBC) is a classical autoimmune liver disease for which effective immunomodulatory therapy is lacking. Here we perform meta-analyses... 
GENOTYPES | POPULATION | ELEMENTS | IMPUTATION | VARIANTS | DATABASE | SERVER | MULTIDISCIPLINARY SCIENCES | SUSCEPTIBILITY LOCI | TRAITS | ASSOCIATION | Liver Cirrhosis, Biliary - genetics | Genome-Wide Association Study | Humans
Journal Article
Scientific reports, ISSN 2045-2322, 2018, Volume 8, Issue 1, pp. 1300 - 17
Journal Article