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1985, 1. Aufl. --, ISBN 3518032186, 263
Book
by Abe, K and Andreopoulos, C and Antonova, M and Aoki, S and Ariga, A and Assylbekov, S and Autiero, D and Barbi, M and Barker, GJ and Barr, G and Bartet-Friburg, P and Batkiewicz, M and Bay, F and Berardi, V and Berkman, S and Bhadra, S and Blondel, A and Bolognesi, S and Bordoni, S and Boyd, SB and Brailsford, D and Bravar, A and Bronner, C and Calland, RG and Cao, S and Rodriguez, JC and Cartwright, SL and Castillo, R and Catanesi, MG and Cervera, A and Cherdack, D and Chikuma, N and Christodoulou, G and Clifton, A and Coleman, J and Collazuol, G and Cremonesi, L and Dabrowska, A and De Rosa, G and Dealtry, T and Dennis, SR and Densham, C and Dewhurst, D and Di Lodovico, F and Di Luise, S and Dolan, S and Drapier, O and Duffy, K and Dumarchez, J and Dytman, S and Dziewiecki, M and Emery-Schrenk, S and Ereditato, A and Feusels, T and Finch, AJ and Fiorentini, GA and Friend, M and Fujii, Y and Fukuda, D and Fukuda, Y and Furmanski, AP and Galymov, V and Garcia, A and Giffin, S and Giganti, C and Gilje, K and Gonin, M and Grant, N and Hadley, DR and Haegel, L and Haigh, MD and Hamilton, P and Hansen, D and Hara, T and Hartz, M and Hasegawa, T and Hastings, NC and Hayashino, T and Hayato, Y and Helmer, RL and Hierholzer, M and Hillairet, A and Himmel, A and Hiraki, T and Hirota, S and Holeczek, J and Horikawa, S and Hosomi, F and Huang, K and Ichikawa, AK and Ieki, K and Ikeda, M and Imber, J and Insler, J and Intonti, RA and Irvine, TJ and Ishida, T and Ishii, T and Iwai, E and Iwamoto, K and ... and T2k Collaboration
PHYSICAL REVIEW D, ISSN 2470-0010, 04/2016, Volume 93, Issue 7
We report a measurement of the nu(mu)-nucleus inclusive charged-current cross section (= sigma(cc)) on iron using data from the INGRID detector exposed to the... 
MONTE-CARLO | NUCLEI | ASTRONOMY & ASTROPHYSICS | SIMULATION | MULTIPLICITY DISTRIBUTIONS | PION ABSORPTION | COLLISIONS | PHYSICS, PARTICLES & FIELDS | Mathematical analysis | Neutrinos | Particle physics | Energy measurement | Detectors | Nucleons | Experiments | Cross sections | Physics - High Energy Physics - Experiment
Journal Article
by Abe, K and Abgrall, N and Ajima, Y and Aihara, H and Albert, J.B and Andreopoulos, C and Andrieu, B and Anerella, M.D and Aoki, S and Araoka, O and Argyriades, J and Ariga, A and Ariga, T and Assylbekov, S and Autiero, D and Badertscher, A and Barbi, M and Barker, G.J and Barr, G and Bass, M and Batkiewicz, M and Bay, F and Bentham, S and Berardi, V and Berger, B.E and Bertram, I and Besnier, M and Beucher, J and Beznosko, D and Bhadra, S and Blaszczyk, F.d.M and Blocki, J and Blondel, A and Bojechko, C and Bouchez, J and Boyd, S.B and Bravar, A and Bronner, C and Brook-Roberge, D.G and Buchanan, N and Budd, H and Calvet, D and Cartwright, S.L and Carver, A and Castillo, R and Catanesi, M.G and Cazes, A and Cervera, A and Chavez, C and Choi, S and Christodoulou, G and Coleman, J and Coleman, W and Collazuol, G and Connolly, K and Curioni, A and Dabrowska, A and Danko, I and Das, R and Davies, G.S and Davis, S and Day, M and De Rosa, G and de André, J.P.A.M and de Perio, P and Dealtry, T and Delbart, A and Densham, C and Di Lodovico, F and Di Luise, S and Dinh Tran, P and Dobson, J and Dore, U and Drapier, O and Dufour, F and Dumarchez, J and Dytman, S and Dziewiecki, M and Dziomba, M and Emery, S and Ereditato, A and Escallier, J.E and Escudero, L and Esposito, L.S and Fechner, M and Ferrero, A and Finch, A.J and Frank, E and Fujii, Y and Fukuda, Y and Galymov, V and Ganetis, G.L and Gannaway, F.C and Gaudin, A and Gendotti, A and George, M and Giffin, S and Giganti, C and Gilje, K and Ghosh, A.K and ... and T2K Collaboration
Nuclear Inst. and Methods in Physics Research, A, ISSN 0168-9002, 12/2012, Volume 694, pp. 211 - 223
Journal Article
Journal of Threatened Taxa, ISSN 0974-7893, 08/2014, Volume 6, Issue 9, pp. 6230 - 6238
We conducted aerial surveys in the austral summer of 2009-2010 to count and record the spatial distribution patterns of pack-ice seals hauled-out along the... 
Journal Article
2018, First edition., Psychology of women book series, ISBN 1433827123, xi, 273 pages
Book
by Blok, Lot Snijders and Rousseau, Justine and Twist, Joanna and Ehresmann, Sophie and Takaku, Motoki and Venselaar, Hanka and Rodan, Lance H and Nowak, Catherine B and Douglas, Jessica and Swoboda, Kathryn J and Steeves, Marcie A and Sahai, Inderneel and Stumpel, Connie T R M and Stegmann, Alexander P A and Wheeler, Patricia and Willing, Marcia and Fiala, Elise and Kochhar, Aaina and Gibson, William T and Cohen, Ana S A and Agbahovbe, Ruky and Innes, A Micheil and Au, P Y Billie and Rankin, Julia and Anderson, Ilse J and Skinner, Steven A and Louie, Raymond J and Warren, Hannah E and Afenjar, Alexandra and Keren, Boris and Nava, Caroline and Buratti, Julien and Isapof, Arnaud and Rodriguez, Diana and Lewandowski, Raymond and Propst, Jennifer and van Essen, Ton and Choi, Murim and Lee, Sangmoon and Chae, Jong H and Price, Susan and Schnur, Rhonda E and Douglas, Ganka and Wentzensen, Ingrid M and Zweier, Christiane and Reis, André and Bialer, Martin G and Moore, Christine and Koopmans, Marije and Brilstra, Eva H and Monroe, Glen R and van Gassen, Koen L I and van Binsbergen, Ellen and Newbury-Ecob, Ruth and Bownass, Lucy and Bader, Ingrid and Mayr, Johannes A and Wortmann, Saskia B and Jakielski, Kathy J and Strand, Edythe A and Kloth, Katja and Bierhals, Tatjana and Roberts, John D and Petrovich, Robert M and Machida, Shinichi and Kurumizaka, Hitoshi and Lelieveld, Stefan and Pfundt, Rolph and Jansen, Sandra and Deriziotis, Pelagia and Faivre, Laurence and Thevenon, Julien and Assoum, Mirna and Shriberg, Lawrence and Kleefstra, Tjitske and Brunner, Han G and Wade, Paul A and Fisher, Simon E and Campeau, Philippe M and DDD study and The DDD study
Nature communications, ISSN 2041-1723, 02/2019, Volume 10, Issue 1, pp. 883 - 4
The original version of this Article contained an error in the spelling of the author Laurence Faivre, which was incorrectly given as Laurence Faive. This has... 
DNA helicase | Neurodevelopmental disorders | Mutation
Journal Article
by Snijders Blok, Lot and Rousseau, Justine and Twist, Joanna and Ehresmann, Sophie and Takaku, Motoki and Venselaar, Hanka and Rodan, Lance H and Nowak, Catherine B and Douglas, Jessica and Swoboda, Kathryn J and Steeves, Marcie A and Sahai, Inderneel and Stumpel, Connie T R M and Stegmann, Alexander P A and Wheeler, Patricia and Willing, Marcia and Fiala, Elise and Kochhar, Aaina and Gibson, William T and Cohen, Ana S A and Agbahovbe, Ruky and Innes, A Micheil and Au, P Y Billie and Rankin, Julia and Anderson, Ilse J and Skinner, Steven A and Louie, Raymond J and Warren, Hannah E and Afenjar, Alexandra and Keren, Boris and Nava, Caroline and Buratti, Julien and Isapof, Arnaud and Rodriguez, Diana and Lewandowski, Raymond and Propst, Jennifer and van Essen, Ton and Choi, Murim and Lee, Sangmoon and Chae, Jong H and Price, Susan and Schnur, Rhonda E and Douglas, Ganka and Wentzensen, Ingrid M and Zweier, Christiane and Reis, André and Bialer, Martin G and Moore, Christine and Koopmans, Marije and Brilstra, Eva H and Monroe, Glen R and van Gassen, Koen L I and van Binsbergen, Ellen and Newbury-Ecob, Ruth and Bownass, Lucy and Bader, Ingrid and Mayr, Johannes A and Wortmann, Saskia B and Jakielski, Kathy J and Strand, Edythe A and Kloth, Katja and Bierhals, Tatjana and Roberts, John D and Petrovich, Robert M and Machida, Shinichi and Kurumizaka, Hitoshi and Lelieveld, Stefan and Pfundt, Rolph and Jansen, Sandra and Deriziotis, Pelagia and Faivre, Laurence and Thevenon, Julien and Assoum, Mirna and Shriberg, Lawrence and Kleefstra, Tjitske and Brunner, Han G and Wade, Paul A and Fisher, Simon E and Campeau, Philippe M and DDD study and The DDD study
Nature communications, ISSN 2041-1723, 05/2019, Volume 10, Issue 1, pp. 2079 - 4
The HTML and PDF versions of this Article were updated after publication to remove images of one individual from Figure 1. 
DNA helicase | Neurodevelopmental disorders | Mutation
Journal Article
by Snijders Blok, Lot and Rousseau, Justine and Twist, Joanna and Ehresmann, Sophie and Takaku, Motoki and Takaku, Motoki and Venselaar, Hanka and Rodan, Lance H and Rodan, Lance H and Nowak, Catherine B and Nowak, Catherine B and Douglas, Jessica and Douglas, Jessica and Swoboda, Kathryn J and Steeves, Marcie A and Sahai, Inderneel and Stumpel, Connie T. R. M and Stumpel, Connie T R M and Stegmann, Alexander P. A and Stegmann, Alexander P A and Wheeler, Patricia and Wheeler, Patricia and Willing, Marcia and Fiala, Elise and Kochhar, Aaina and Kochhar, Aaina and Gibson, William T and Gibson, William T and Cohen, Ana S. A and Cohen, Ana S A and Agbahovbe, Ruky and Agbahovbe, Ruky and Innes, A Micheil and Innes, A. Micheil and Au, P Y Billie and Au, P. Y. Billie and Rankin, Julia and Anderson, Ilse J and Anderson, Ilse J and Skinner, Steven A and Louie, Raymond J and Warren, Hannah E and Afenjar, Alexandra and Afenjar, Alexandra and Keren, Boris and Keren, Boris and Nava, Caroline and Nava, Caroline and Buratti, Julien and Isapof, Arnaud and Isapof, Arnaud and Rodriguez, Diana and Rodriguez, Diana and Lewandowski, Raymond and Propst, Jennifer and van Essen, Ton and Choi, Murim and Choi, Murim and Lee, Sangmoon and Lee, Sangmoon and Chae, Jong H and Chae, Jong H and Price, Susan and Schnur, Rhonda E and Douglas, Ganka and Wentzensen, Ingrid M and Zweier, Christiane and Zweier, Christiane and Reis, André and Reis, André and Bialer, Martin G and Bialer, Martin G and Moore, Christine and Moore, Christine and Koopmans, Marije and Brilstra, Eva H and Monroe, Glen R and van Gassen, Koen L. I and van Gassen, Koen L I and van Binsbergen, Ellen and Newbury-Ecob, Ruth and Newbury-Ecob, Ruth and Bownass, Lucy and Bownass, Lucy and Bader, Ingrid and Bader, Ingrid and Mayr, Johannes A and Wortmann, Saskia B and Wortmann, Saskia B and Jakielski, Kathy J and Jakielski, Kathy J and Strand, Edythe A and Kloth, Katja and Bierhals, Tatjana and Roberts, John D and Roberts, John D and Petrovich, Robert M and Machida, Shinichi and Machida, Shinichi and Kurumizaka, Hitoshi and ... and DDD Study and DDD study and The DDD study
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 4619 - 12
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 | 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