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by Salomon, Joshua A and Vos, Theo and Hogan, Daniel R and Gagnon, Michael and Naghavi, Mohsen and Mokdad, Ali and Begum, Nazma and Shah, Razibuzzaman and Karyana, Muhammad and Kosen, Soewarta and Farje, Mario Reyna and Moncada, Gilberto and Dutta, Arup and Sazawal, Sunil and Dyer, Andrew and Seiler, Jason and Aboyans, Victor and Baker, Lesley and Baxter, Amanda and Benjamin, Emelia J and Bhalla, Kavi and Abdulhak, Aref Bin and Blyth, Fiona and Bourne, Rupert and Braithwaite, Tasanee and Brooks, Peter and Brugha, Traolach S and Bryan-Hancock, Claire and Buchbinder, Rachelle and Burney, Peter and Calabria, Bianca and Chen, Honglei and Chugh, Sumeet S and Cooley, Rebecca and Criqui, Michael H and Cross, Marita and Dabhadkar, Kaustubh C and Dahodwala, Nabila and Davis, Adrian and Degenhardt, Louisa and Díaz-Torné, Cesar and Dorsey, E Ray and Driscoll, Tim and Edmond, Karen and Elbaz, Alexis and Ezzati, Majid and Feigin, Valery and Ferri, Cleusa P and Flaxman, Abraham D and Flood, Louise and Fransen, Marlene and Fuse, Kana and Gabbe, Belinda J and Gillum, Richard F and Haagsma, Juanita and Harrison, James E and Havmoeller, Rasmus and Hay, Roderick J and Hel-Baqui, Abdullah and Hoek, Hans W and Hoffman, Howard and Hogeland, Emily and Hoy, Damian and Jarvis, Deborah and Jonas, Jost B and Karthikeyan, Ganesan and Knowlton, Lisa Marie and Lathlean, Tim and Leasher, Janet L and Lim, Stephen S and Lipshultz, Steven E and Lopez, Alan D and Lozano, Rafael and Lyons, Ronan and Malekzadeh, Reza and Marcenes, Wagner and March, Lyn and Margolis, David J and McGill, Neil and McGrath, John and Mensah, George A and Meyer, Ana-Claire and Michaud, Catherine and Moran, Andrew and Mori, Rintaro and Murdoch, Michele E and Naldi, Luigi and Newton, Charles R and Norman, Rosana and Omer, Saad B and Osborne, Richard and Pearce, Neil and Perez-Ruiz, Fernando and Perico, Norberto and Pesudovs, Konrad and Phillips, David and Pourmalek, Farshad and Prince, Martin and Rehm, Jürgen T and Remuzzi, Guiseppe and ...
The Lancet (British edition), ISSN 0140-6736, 12/2012, Volume 380, Issue 9859, pp. 2129 - 2143
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
Haematologica, ISSN 0390-6078, 12/2013, Volume 98, Issue 12, pp. 1872 - 1876
Ruxolitinib, a JAK1/JAK2 inhibitor, is currently the only pharmacological agent approved for the treatment of myelofibrosis. Approval was based on findings... 
Life Sciences & Biomedicine | Hematology | Science & Technology | Primary Myelofibrosis - diagnosis | Primary Myelofibrosis - drug therapy | Pyrazoles - therapeutic use | Humans | Male | Treatment Outcome | Aged | Janus Kinase 1 - antagonists & inhibitors | Janus Kinase 2 - antagonists & inhibitors | Pyrazoles - pharmacology | Index Medicus
Journal Article
The Lancet (British edition), ISSN 0140-6736, 07/2017, Volume 390, Issue 10090, pp. 145 - 154
Journal Article
Journal of clinical oncology, ISSN 1527-7755, 11/2012, Volume 30, Issue 33, pp. 4098 - 4103
Journal Article
The New England journal of medicine, ISSN 1533-4406, 01/2015, Volume 372, Issue 5, pp. 426 - 435
Journal Article
The New England journal of medicine, ISSN 1533-4406, 10/2018, Volume 379, Issue 15, pp. 1416 - 1430
Journal Article