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Lecturae tropatorum, ISSN 1974-4374, 06/2008, Volume 1, pp. 1 - 18
The article provides a commentary and a new critical edition of an Occitan tenso between two Italian troubadours, Joan... 
Nicolet de Turin | Troubadours | Textual criticism | Interpretation | Old Occitan | Joan d’Albuzon
Journal Article
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 (London), ISSN 1476-4687, 01/2017, 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... 
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | 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 | Index Medicus | 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
BMJ : British Medical Journal, ISSN 1756-1833, 9/2012, Volume 345, Issue sep06 2, pp. e5660 - e5660
Journal Article
by Fan, Qiao and Verhoeven, Virginie J. M and Wojciechowski, Robert and Barathi, Veluchamy A and Hysi, Pirro G and Guggenheim, Jeremy A and Höhn, René and Vitart, Veronique and Khawaja, Anthony P and Yamashiro, Kenji and Hosseini, S Mohsen and Lehtimäki, Terho and Lu, Yi and Haller, Toomas and Xie, Jing and Delcourt, Cécile and Pirastu, Mario and Wedenoja, Juho and Gharahkhani, Puya and Venturini, Cristina and Miyake, Masahiro and Hewitt, Alex W and Guo, Xiaobo and Mazur, Johanna and Huffman, Jenifer E and Williams, Katie M and Polasek, Ozren and Campbell, Harry and Rudan, Igor and Vatavuk, Zoran and Wilson, James F and Joshi, Peter K and McMahon, George and St Pourcain, Beate and Evans, David M and Simpson, Claire L and Schwantes-An, Tae-Hwi and Igo, Robert P and Mirshahi, Alireza and Cougnard-Gregoire, Audrey and Bellenguez, Céline and Blettner, Maria and Raitakari, Olli and Kähönen, Mika and Seppälä, Ilkka and Zeller, Tanja and Meitinger, Thomas and Ried, Janina S and Gieger, Christian and Portas, Laura and van Leeuwen, Elisabeth M and Amin, Najaf and Uitterlinden, André G and Rivadeneira, Fernando and Hofman, Albert and Vingerling, Johannes R and Wang, Ya Xing and Wang, Xu and Tai-Hui Boh, Eileen and Ikram, M. Kamran and Sabanayagam, Charumathi and Gupta, Preeti and Tan, Vincent and Zhou, Lei and Ho, Candice E. H and Lim, Wan’e and Beuerman, Roger W and Siantar, Rosalynn and Tai, E-Shyong and Vithana, Eranga and Mihailov, Evelin and Khor, Chiea-Chuen and Hayward, Caroline and Luben, Robert N and Foster, Paul J and Klein, Barbara E. K and Klein, Ronald and Wong, Hoi-Suen and Mitchell, Paul and Metspalu, Andres and Aung, Tin and Young, Terri L and He, Mingguang and Pärssinen, Olavi and van Duijn, Cornelia M and Jin Wang, Jie and Williams, Cathy and Jonas, Jost B and Teo, Yik-Ying and Mackey, David A and Oexle, Konrad and Yoshimura, Nagahisa and Paterson, Andrew D and Pfeiffer, Norbert and Wong, Tien-Yin and Baird, Paul N and Stambolian, Dwight and Wilson, Joan E. Bailey and Cheng, Ching-Yu and Hammond, Christopher J and ... and Consortium for Refractive Error and Myopia (CREAM) and Consortium Refractive Error Myopia and Consortium for Refractive Error and Myopia
Nature communications, ISSN 2041-1723, 04/2016, Volume 7, Issue 1, pp. 11008 - 11008
Journal Article
by Carss, Keren J and Arno, Gavin and Erwood, Marie and Stephens, Jonathan and Sanchis-Juan, Alba and Hull, Sarah and Megy, Karyn and Grozeva, Detelina and Dewhurst, Eleanor and Malka, Samantha and Plagnol, Vincent and Penkett, Christopher and Stirrups, Kathleen and Rizzo, Roberta and Wright, Genevieve and Josifova, Dragana and Bitner-Glindzicz, Maria and Scott, Richard H and Clement, Emma and Allen, Louise and Armstrong, Ruth and Brady, Angela F and Carmichael, Jenny and Chitre, Manali and Henderson, Robert H.H and Hurst, Jane and MacLaren, Robert E and Murphy, Elaine and Paterson, Joan and Rosser, Elisabeth and Thompson, Dorothy A and Wakeling, Emma and Ouwehand, Willem H and Michaelides, Michel and Moore, Anthony T and Webster, Andrew R and Raymond, F. Lucy and Aitman, Timothy and Alachkar, Hana and Ali, Sonia and Allsup, David and Ambegaonkar, Gautum and Anderson, Julie and Antrobus, Richard and Arumugakani, Gururaj and Ashford, Sofie and Astle, William and Attwood, Antony and Austin, Steve and Bacchelli, Chiara and Bakchoul, Tamam and Bariana, Tadbir K and Baxendale, Helen and Bennett, David and Bethune, Claire and Bibi, Shahnaz and Bleda, Marta and Boggard, Harm and Bolton-Maggs, Paula and Booth, Claire and Bradley, John R and Brady, Angie and Brown, Matthew and Browning, Michael and Bryson, Christine and Burns, Siobhan and Calleja, Paul and Canham, Natalie and Carss, Keren and Caulfield, Mark and Chalmers, Elizabeth and Chandra, Anita and Chinnery, Patrick and Church, Colin and Clements-Brod, Naomi and Clowes, Virginia and Coghlan, Gerry and Collins, Peter and Cooper, Nichola and Creaser-Myers, Amanda and DaCosta, Rosa and Daugherty, Louise and Davies, Sophie and Davis, John and De Vries, Minka and Deegan, Patrick and Deevi, Sri V.V and Deshpande, Charu and Devlin, Lisa and Doffinger, Rainer and Dormand, Natalie and Drewe, Elizabeth and Edgar, David and Egner, William and Erber, Wendy N and Everington, Tamara and Favier, Remi and Firth, Helen and Fletcher, Debra and Flinter, Frances and ... and NIHR-BioResource Rare Diseases Consortium and NIHR-BioResource Rare Dis
American journal of human genetics, ISSN 0002-9297, 01/2017, Volume 100, Issue 1, pp. 75 - 90
Journal Article
Index to theses accepted for higher degrees in the universities of Great Britain and Ireland, ISSN 0144-3100
Journal
Nature genetics, ISSN 1546-1718, 08/2011, Volume 43, Issue 9, pp. 879 - 882
Journal Article