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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
Frontiers in Immunology, ISSN 1664-3224, 09/2016, Volume 7, p. 351
Human NK cells are distinguished into CD56(bright)CD16(-) cells and CD56(dim)CD16(+) cells. These two subsets are conventionally associated with differential... 
Immune checkpoint | HCMV | NKG2C | Human NK cells | Memory | CD57 | PD-1 | NATURAL-KILLER-CELLS | memory | IMMUNOLOGY | CANCER-THERAPY | VIRAL-INFECTIONS | human NK cells | ANTI-PD-1 ANTIBODY | immune checkpoint | HUMAN CYTOMEGALOVIRUS-INFECTION | EXPANSION | UMBILICAL-CORD BLOOD | CLASS-I MOLECULES | RECEPTORS | T-CELLS | Antiviral agents | Killer cells | Dosage and administration | Research | hcmv
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 4/2003, Volume 100, Issue 7, pp. 4120 - 4125
The surface density of the triggering receptors responsible for the natural killer (NK)-mediated cytotoxicity is crucial for the ability of NK cells to kill... 
Molecules | Biological Sciences | Receptors | Phenotypes | Reverse transcriptase polymerase chain reaction | Cell lines | Cultured cells | Cytotoxicity | Natural killer cells | Down regulation | Tumors
Journal Article
by Santini, Daniele and Santini, Daniele and Pantano, Francesco and Pantano, Francesco and Riccardi, Ferdinando and Riccardi, Ferdinando and Di Costanzo, Giovan G.iuseppe and Di Costanzo, Giovan Giuseppe and Addeo, Raffaele and Addeo, Raffaele and Guida, Francesco Maria and Guida, Francesco M.aria and Ceruso, Mariella S.palato and Ceruso, Mariella Spalato and Barni, Sandro and Barni, Sandro and Bertocchi, Paola and Bertocchi, Paola and Marinelli, Sara and Marinelli, Sara and Marchetti, Paolo and Marchetti, Paolo and Russo, Antonio and Russo, Antonio and Scartozzi, Mario and Scartozzi, Mario and Faloppi, Luca and Faloppi, Luca and Santoni, Matteo and Santoni, Matteo and Cascinu, Stefano and Cascinu, Stefano and Maiello, Evaristo and Maiello, Evaristo and Silvestris, Franco and Silvestris, Franco and Tucci, Marco and Tucci, Marco and Ibrahim, Toni and Ibrahim, Toni and Masi, Gianluca and Masi, Gianluca and Gnoni, Antonio and Gnoni, Antonio and Comandone, Alessandro and Comandone, Alessandro and Fazio, Nicola and Fazio, Nicola and Conti, Alessandro and Conti, Alessandro and Imarisio, Ilaria and Imarisio, Ilaria and Pisconti, Salvatore and Pisconti, Salvatore and Giommoni, Elisa and Giommoni, Elisa and Cinieri, Saverio and Cinieri, Saverio and Catalano, Vincenzo and Catalano, Vincenzo and Palmieri, Vincenzo Ostilio and Palmieri, Vincenzo O.stilio and Infante, Giovanni and Infante, Giovanni and Aieta, Michele and Aieta, Michele and Trogu, Antonio and Trogu, Antonio and Gadaleta, Cosmo Damiano and Gadaleta, Cosmo D.amiano and Brunetti, Anna E.lisabetta and Brunetti, Anna Elisabetta and Lorusso, Vito and Lorusso, Vito and Silvestris, Nicola and Silvestris, Nicola
PLoS ONE, ISSN 1932-6203, 08/2014, Volume 9, Issue 8, p. e105268
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