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Journal Article
Journal Article
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2016, Volume 6, Issue 1, pp. 39709 - 39709
Journal Article
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 1416 - 16
Pulmonary arterial hypertension (PAH) is a rare disorder with a poor prognosis. Deleterious variation within components of the transforming growth factor-beta... 
SOX17 | GENE | ANGIOGENESIS | CRYSTAL-STRUCTURE | MULTIDISCIPLINARY SCIENCES | BMP9 | ASSOCIATION | EXPRESSION | NONSENSE MUTATION | BETA-RECEPTOR | CAVEOLIN-1 | Prognosis | Humans | Male | Familial Primary Pulmonary Hypertension - diagnosis | SOXF Transcription Factors - metabolism | Aquaporin 1 - metabolism | Case-Control Studies | Familial Primary Pulmonary Hypertension - metabolism | Membrane Transport Proteins - genetics | Base Sequence | HEK293 Cells | Adult | Female | Growth Differentiation Factors - genetics | Membrane Transport Proteins - metabolism | Familial Primary Pulmonary Hypertension - pathology | Genetic Predisposition to Disease | Bone Morphogenetic Protein Receptors, Type II - genetics | Signal Transduction | Gene Expression Regulation | Adenosine Triphosphatases - metabolism | Models, Molecular | Familial Primary Pulmonary Hypertension - genetics | Bone Morphogenetic Protein Receptors, Type II - metabolism | Membrane Transport Proteins - chemistry | Whole Genome Sequencing | Aquaporin 1 - chemistry | Aquaporin 1 - genetics | Growth Differentiation Factors - metabolism | Transforming Growth Factor beta - genetics | Adenosine Triphosphatases - chemistry | Adenosine Triphosphatases - genetics | Mutation | SOXF Transcription Factors - genetics | Transforming Growth Factor beta - metabolism | SOXF Transcription Factors - chemistry | Growth Differentiation Factors - chemistry | Hypertension | Bone morphogenetic protein receptor type II | Secretion | Lung | Transforming growth factor | Genes | Genomes | Heritability | Aquaporin 1 | Gene sequencing | Index Medicus
Journal Article
Journal Article
Revista Crítica de Ciências Sociais, ISSN 0254-1106, 12/2018, Volume 117, pp. 123 - 144
A model for citizen participation in the area of health services was established in Puertollano (Castilla-La Mancha, Spain) and was carried out from 2008 to... 
health systems | public policies | citizen participation | democracy | Spain
Journal Article
Revista Crítica de Ciências Sociais, ISSN 0254-1106, 12/2018, Issue 117, pp. 123 - 144
Journal Article
by Tuijnenburg, Paul and Lango Allen, Hana and Burns, Siobhan O and Burns, Siobhan and Greene, Daniel and Jansen, Machiel H and Staples, Emily and Stephens, Jonathan and Carss, Keren J and Carss, Keren and Biasci, Daniele and Baxendale, Helen and Thomas, Moira and Chandra, Anita and Kiani-Alikhan, Sorena and Longhurst, Hilary and Longhurst, Hilary J and Seneviratne, Suranjith and Seneviratne, Suranjith L and Oksenhendler, Eric and Simeoni, Ilenia and de Bree, Godelieve J and Tool, Anton T.J and van Leeuwen, Ester M.M and Ebberink, Eduard H.T.M and Meijer, Alexander B and Tuna, Salih and Whitehorn, Deborah and Brown, Matthew and Turro, Ernest and Thrasher, Adrian and Thrasher, Adrian J and Smith, Kenneth G.C and Thaventhiran, James E and Thaventhiran, James and Kuijpers, Taco W and Kuijpers, Taco and Adhya, Zoe and Alachkar, Hana and Anantharachagan, Ariharan and Antrobus, Richard and Arumugakani, Gururaj and Bacchelli, Chiara and Bethune, Claire and Bibi, Shahnaz and Boardman, Barbara and Booth, Claire and Browning, Michael and Brownlie, Mary and Clifford, Hayley and Cooper, Nichola and Davies, Sophie and Dempster, John and Devlin, Lisa and Doffinger, Rainer and Drewe, Elizabeth and Edgar, David and Egner, William and El-Shanawany, Tariq and Gaspar, Bobby and Ghurye, Rohit and Gilmour, Kimberley and Goddard, Sarah and Gordins, Pavel and Grigoriadou, Sofia and Hackett, Scott and Hague, Rosie and Harper, Lorraine and Hayman, Grant and Herwadkar, Archana and Hughes, Stephen and Huissoon, Aarnoud and Jolles, Stephen and Jones, Julie and Kelleher, Peter and Klein, Nigel and Kumararatne, Dinakantha and Laffan, James and Lear, Sara and Lorenzo, Lorena and Maimaris, Jesmeen and Manson, Ania and McDermott, Elizabeth and Millar, Hazel and Mistry, Anoop and Morrisson, Valerie and Murng, Sai and Nasir, Iman and Nejentsev, Sergey and Noorani, Sadia and Ponsford, Mark and Qasim, Waseem and Quinn, Ellen and Quinti, Isabella and Richter, Alex and Samarghitean, Crina and Sargur, Ravishankar and Savic, Sinisa and Sewall, Carrock and Shackley, Fiona and ... and NIHR BioResource-Rare Dis
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 10/2018, Volume 142, Issue 4, pp. 1285 - 1296
Journal Article
by French, Courtney E and Delon, Isabelle and Dolling, Helen and Sanchis-Juan, Alba and Shamardina, Olga and Mégy, Karyn and Abbs, Stephen and Austin, Topun and Bowdin, Sarah and Branco, Ricardo G and Firth, Helen and Tuna, Salih and Aitman, Timothy J and Ashford, Sofie and Astle, Willian J and Bennet, David L and Bleda, Marta and Carss, Keren J and Chinnery, Patrick F and Deevi, Sri V. V and Fletcher, Debra and Gale, Daniel P and Gräf, Stefan F and Hu, Fengyuan and James, Roger and Kasanicki, Mary A and Kingston, Nathalie and Koziell, Ania B and Allen, Hana Lango and Maher, Eamonn R and Markus, Hugh S and Meacham, Stuart and Morrell, Nicholas W and Penkett, Christopher J and Roberts, Irene and Smith, Kenneth G. C and Stark, Hannah and Stirrups, Kathleen E and Turro, Ernest and Watkins, Hugh and Williamson, Catherine and Young, Timothy and Bradley, John R and Ouwehand, Willem H and Raymond, F. Lucy and Agrawal, Shruti and Armstrong, Ruth and Beardsall, Kathryn and Belteki, Gusztav and Bohatschek, Marion and Broster, Susan and Campbell, Rosalie and Chaudhary, Rajiv and Costa, Cristine and D’Amore, Angela and Fitzsimmons, Annie and Hague, Jennifer and Harley, Joanne and Hoodbhoy, Shazia and Kayani, Riaz and Kelsall, Wilf and Mehta, Sarju G and O’Donnell, Roddy and O’Hare, Samantha and Ogilvy-Stuart, Amanda and Papakostas, Stergios and Park, Soo-Mi and Parker, Alasdair and Pathan, Nazima and Prapa, Matina and Sammut, Audrienne and Sandford, Richard and Schon, Katherine and Singh, Yogen and Spike, Kelly and Tavares, Ana Lisa Taylor and Wari-Pepple, Doris and Wong, Hilary S and Woods, C. Geoff and Raymond, F. Lucy and Rowitch, David H and Raymond, F. Lucy and NIHR BioResource-Rare Dis and Next Generation Children Project and NIHR BioResource—Rare Disease
Intensive Care Medicine, ISSN 0342-4642, 05/2019, Volume 45, Issue 5, pp. 627 - 636
PurposeWith growing evidence that rare single gene disorders present in the neonatal period, there is a need for rapid, systematic, and comprehensive genomic... 
Genetics | NICU | Critically ill children | Whole genome sequencing | Genomics | PICU | CRITICAL CARE MEDICINE | Genetic disorders | Analysis | Genetic aspects | Nucleotide sequencing | Risk factors | DNA sequencing | Neonates | Phenotypes | Nucleotide sequence | Decision making | Diagnostic software | Decisions | Genomes | Diagnostic systems | Children | Diagnosis | Gene sequencing | Data interpretation | Original
Journal Article
Scientific Reports, ISSN 2045-2322, 11/2015, Volume 5, Issue 1, pp. 16473 - 16473
Journal Article
by Farmery, James H. R and Smith, Mike L and Huissoon, Aarnoud and Furnell, Abigail and Mead, Adam and Levine, Adam P and Manzur, Adnan and Thrasher, Adrian and Greenhalgh, Alan and Parker, Alasdair and Sanchis-Juan, Alba and Richter, Alex and Gardham, Alice and Lawrie, Allan and Sohal, Aman and Creaser-Myers, Amanda and Frary, Amy and Greinacher, Andreas and Themistocleous, Andreas and Peacock, Andrew J and Marshall, Andrew and Mumford, Andrew and Rice, Andrew and Webster, Andrew and Brady, Angie and Koziell, Ania and Manson, Ania and Chandra, Anita and Hensiek, Anke and Veld, Anna Huis In'T and Maw, Anna and Kelly, Anne M and Moore, Anthony and Vonk Noordegraaf, Anton and Attwood, Antony and Herwadkar, Archana and Ghofrani, Ardi and Houweling, Arjan C and Girerd, Barbara and Furie, Bruce and Treacy, Carmen M and Millar, Carolyn M and Sewell, Carrock and Roughley, Catherine and Titterton, Catherine and Williamson, Catherine and Hadinnapola, Charaka and Deshpande, Charu and Toh, Cheng-Hock and Bacchelli, Chiara and Patch, Chris and Geet, Chris Van and Babbs, Christian and Bryson, Christine and Penkett, Christopher J and Rhodes, Christopher J and Watt, Christopher and Bethune, Claire and Booth, Claire and Lentaigne, Claire and McJannet, Coleen and Church, Colin and French, Courtney and Samarghitean, Crina and Halmagyi, Csaba and Gale, Daniel and Greene, Daniel and Hart, Daniel and Allsup, David and Bennett, David and Edgar, David and Kiely, David G and Gosal, David and Perry, David J and Keeling, David and Montani, David and Shipley, Debbie and Whitehorn, Deborah and Fletcher, Debra and Krishnakumar, Deepa and Grozeva, Detelina and Kumararatne, Dinakantha and Thompson, Dorothy and Josifova, Dragana and Maher, Eamonn and Wong, Edwin K. S and Murphy, Elaine and Dewhurst, Eleanor and Louka, Eleni and Rosser, Elisabeth and Chalmers, Elizabeth and Colby, Elizabeth and Drewe, Elizabeth and McDermott, Elizabeth and Thomas, Ellen and Staples, Emily and Clement, Emma and Matthews, Emma and Wakeling, Emma and Oksenhendler, Eric and ... and NIHR BioResource-Rare Dis and NIHR BioResource - Rare Diseases
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 1300 - 17
Telomere length is a risk factor in disease and the dynamics of telomere length are crucial to our understanding of cell replication and vitality. The... 
MULTIDISCIPLINARY SCIENCES | DISEASE | Telomeres | Ploidy | Computer applications | Data processing | Genomes | Chromosomes | Telomerase | Genotypes | Cancer | Index Medicus
Journal Article