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VETERINARY RECORD, ISSN 0042-4900, 05/2015, Volume 176, Issue 20, pp. 525 - U57
Journal Article
by Allemani, Claudia and Matsuda, Tomohiro and Di Carlo, Veronica and Harewood, Rhea and Matz, Melissa and Nikšić, Maja and Bonaventure, Audrey and Valkov, Mikhail and Johnson, A T and Johnson, Christopher J and Johnson, F and Estève, Jacques and Ogunbiyi, Olufemi J and Azevedo e Silva, Gulnar and Chen, J G and Chen, Wan-Qing and Chen, J S and Eser, Sultan and Engholm, Gerda and Stiller, Charles A and Monnereau, Alain and Woods, Ryan R and Visser, Otto and Lim, Gek Hsiang and Aitken, Joanne and Weir, Hannah K and Coleman, Michel P and Bouzbid, S and Hamdi-Chérif, M and Zaidi, Z and Meguenni, K and Regagba, D and Bayo, S and Cheick Bougadari, T and Manraj, S S and Bendahhou, K and Fabowale, A and Bradshaw, D and Somdyala, N I M and Kumcher, I and Moreno, F and Calabrano, G H and Espinola, S B and Carballo Quintero, B and Fita, R and Diumenjo, M C and Laspada, W D and Ibañez, S G and Lima, C A and De Souza, P C F and Del Pino, K and Laporte, C and Curado, M P and de Oliveira, J C and Veneziano, C L A and Veneziano, D B and Latorre, M R D O and Tanaka, L F and Rebelo, M S and Santos, M O and Galaz, J C and Aparicio Aravena, M and Sanhueza Monsalve, J and Herrmann, C and Herrmann, D A and Vargas, S and Herrera, A A and Herrera, V M and Uribe, C J and Bravo, L E and Garcia, L and Garcia, L S and Arias-Ortiz, N E and Morantes, D and Jurado, D M and Yépez Chamorro, M C and Delgado, S and Ramirez, M and Galán Alvarez, Y H and Torres, P and Martínez-Reyes, F and Jaramillo, L and Quinto, R and Castillo, J and Mendoza, M and Cueva, P and Yépez, J G and Bhakkan, B and Deloumeaux, J and Joachim, C and Macni, J and Carrillo, R and Shalkow Klincovstein, J and Rivera Gomez, R and Poquioma, E and Tortolero-Luna, G and Zavala, D and Alonso, R and Barrios, E and Eckstrand, A and ... and CONCORD Working Grp and CONCORD Working Group and Argonne National Lab. (ANL), Argonne, IL (United States). Advanced Photon Source (APS)
The Lancet, ISSN 0140-6736, 03/2018, Volume 391, Issue 10125, pp. 1023 - 1075
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, 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
The Deakin Review of Children's Literature, ISSN 1927-1484, 10/2017, Volume 7, Issue 2
Lanthier, Jennifer.  Hurry Up, Henry, illustrated by Isabelle Malenfant, Penguin Canada Books, 2016.Dreamers and introverts need time: time to observe; time to... 
Journal Article
by Michailidou, Kyriaki and Hall, Per and Gonzalez-Neira, Anna and Ghoussaini, Maya and Dennis, Joe and Milne, Roger L and Schmidt, Marjanka K and Chang-Claude, Jenny and Bojesen, Stig E and Bolla, Manjeet K and Wang, Qin and Dicks, Ed and Lee, Anew and Turnbull, Clare and Rahman, Nazneen and Fletcher, Olivia and Peto, Julian and Gibson, Lorna and dos Santos Silva, Isabel and Nevanlinna, Heli and Muranen, Taru A and Aittomäki, Kristiina and Blomqvist, Carl and Czene, Kamila and Irwanto, Astrid and Liu, Jianjun and Waisfisz, Quinten and Meijers-Heijboer, Hanne and Adank, Muriel and van der Luijt, Rob B and Hein, Rebecca and Dahmen, Norbert and Beckman, Lars and Meindl, Alfons and Schmutzler, Rita K and Müller-Myhsok, Bertram and Lichtner, Peter and Hopper, John L and Southey, Melissa C and Makalic, Enes and Schmidt, Daniel F and Uitterlinden, Ane G and Hofman, Albert and Hunter, David J and Chanock, Stephen J and Vincent, Daniel and Bacot, François and Tessier, Daniel C and Canisius, Sander and Wessels, Lodewyk F. A and Haiman, Christopher A and Shah, Mitul and Luben, Robert and Brown, Judith and Luccarini, Craig and Schoof, Nils and Humphreys, Keith and Li, Jingmei and Nordestgaard, Børge G and Nielsen, Sune F and Flyger, Henrik and Couch, Fergus J and Wang, Xianshu and Vachon, Celine and Stevens, Kristen N and Lambrechts, Diether and Moisse, Matthieu and Paridaens, Robert and Christiaens, Marie-Rose and Rudolph, Anja and Nickels, Stefan and Flesch-Janys, Dieter and Johnson, Nichola and Aitken, Zoe and Aaltonen, Kirsimari and Heikkinen, Tuomas and Broeks, Annegien and van 't Veer, Laura J and van der Schoot, C. Ellen and Guénel, Pascal and Truong, Thérèse and Laurent-Puig, Pierre and Menegaux, Florence and Marme, Frederik and Schneeweiss, Aneas and Sohn, Christof and Burwinkel, Barbara and Zamora, M. Pilar and Perez, Jose Ignacio Arias and Pita, Guillermo and Alonso, M. Rosario and Cox, Angela and Brock, Ian W and Cross, Simon S and Reed, Malcolm W. R and Sawyer, Elinor J and Tomlinson, Ian and Kerin, Michael J and Miller, Nicola and Henderson, Brian E and ... and kConFab Investigators and GENICA Gene Environm Interaction B and Hereditary Breast Ovarian Canc Res and Australian Ovarian Can Study Grp and Breast Ovarian Canc Susceptibility and Australian Ovarian Cancer Study Group and GENICA (Gene Environment Interaction and Breast Cancer in Germany) Network and Breast and Ovarian Cancer Susceptibility Collaboration and Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON) and The Breast and Ovarian Cancer Susceptibility Collaboration and The GENICA (Gene Environment Interaction and Breast Cancer in Germany) Network
Nature genetics, ISSN 1061-4036, 2013, Volume 45, Issue 4, pp. 353 - 361
Journal Article
The Deakin Review of Children's Literature, ISSN 1927-1484, 07/2017, Volume 7, Issue 1
Grant, Joyce.  Gabby Wonder Girl, illustrated by Jan Dolby. Fitzhenry and Whiteside, 2016Rising again from Joyce Grant’s imagination, Gabby and Roy, “the... 
Journal Article
Tetrahedron, ISSN 0040-4020, 11/2017, Volume 73, Issue 44, pp. 6275 - 6285
A survey of 20 carbonyl-stabilised phosphonium ylides with recently reported X-ray structures shows a strong correlation between the C[dbnd]P to C[dbnd]O... 
Cycloalkynes | NMR coupling constants | Pyrolysis | X-ray structure | Ylides
Journal Article