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Paediatrics and Child Health, ISSN 1751-7222, 2012, Volume 23, Issue 6, pp. 237 - 242
Abstract Epilepsy affects 1 in 200 children in the UK. Appropriate management and prognosis depends on accurate diagnosis. There is no single diagnostic test.... 
Pediatrics | epilepsy | seizures | differential diagnosis | magnetic resonance imaging | childhood | EEG | Differential diagnosis | Magnetic resonance imaging | Epilepsy | Childhood | Seizures
Journal Article
by Carss, Keren J and Carss, Keren and Arno, Gavin and Erwood, Marie and Stephens, Jonathan and Sanchis-Juan, Alba and Hull, Sarah and Megy, Karyn and Grozeva, Detelina and Dewhurst, Eleanor and Malka, Samantha and Plagnol, Vincent and Penkett, Christopher J and Penkett, Christopher and Stirrups, Kathleen and Rizzo, Roberta and Wright, Genevieve and Josifova, Dragana and Bitner-Glindzicz, Maria and Scott, Richard H and Scott, Richard and Clement, Emma and Allen, Hana Lango and Allen, Louise and Armstrong, Ruth and Brady, Angela F and Brady, Angie and Carmichael, Jenny and Chitre, Manali and Henderson, Robert H.H and Henderson, Robert and Hurst, Jane and MacLaren, Robert E and MacLaren, Robert and Murphy, Elaine and Paterson, Joan and Rosser, Elisabeth and Thompson, Dorothy A and Thompson, Dorothy and Wakeling, Emma and Ouwehand, Willem H and Michaelides, Michel and Moore, Anthony and Moore, Anthony T and Aitman, Timothy and Alachkar, Hana and Ali, Sonia and Allsup, David and Ambegaonkar, Gautum and Anderson, Julie and Antrobus, Richard and Arumugakani, Gururaj and Ashford, Sofie and Astle, William and Attwood, Antony and Austin, Steve and Bacchelli, Chiara and Bakchoul, Tamam and Bariana, Tadbir K and Baxendale, Helen and Bennett, David and Bethune, Claire and Bibi, Shahnaz and Bleda, Marta and Boggard, Harm and Bolton-Maggs, Paula and Booth, Claire and Bradley, John R and Brown, Matthew and Browning, Michael and Bryson, Christine and Burns, Siobhan and Calleja, Paul and Canham, Natalie and Caulfield, Mark and Chalmers, Elizabeth and Chandra, Anita and Chinnery, Patrick and Church, Colin and Clements-Brod, Naomi and Clowes, Virginia and Coghlan, Gerry and Collins, Peter and Cooper, Nichola and Creaser-Myers, Amanda and DaCosta, Rosa and Daugherty, Louise and Davies, Sophie and Davis, John and De Vries, Minka and Deegan, Patrick and Deevi, Sri V.V and Deshpande, Charu and Devlin, Lisa and Doffinger, Rainer and Dormand, Natalie and Drewe, Elizabeth and Edgar, David and Egner, William and Erber, Wendy N and ... and NIHR-BioResource Rare Dis and NIHR-BioResource Rare Diseases Consortium
The American Journal of Human Genetics, ISSN 0002-9297, 01/2017, Volume 100, Issue 1, pp. 75 - 90
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 2017, Volume 21, pp. e76 - e77
Journal Article
Archives of Disease in Childhood: Education and Practice Edition, ISSN 1743-0585, 06/2016, Volume 101, Issue 3, pp. 165 - 165
  The combination of thromboembolic episodes in a young person along with marfanoid habitus, myopia, ectopia lentis and learning disability are clues to the... 
Venous Thrombosis - diagnostic imaging | Brain - diagnostic imaging | Carotid Arteries - diagnostic imaging | Vascular Diseases - diagnosis | Humans | Four-Dimensional Computed Tomography | Amino acids | Health risk assessment | Homocysteine | Thrombosis
Journal Article
Archives of disease in childhood - Education & practice edition, ISSN 1743-0585, 06/2016, Volume 101, Issue 3, pp. 145 - 165
  Cerebral abscess Venous infarction Superior sagittal and transverse sinus thrombosis Arachnoid cyst Which diagnosis should be considered? MELAS Moyamoya... 
Stroke - etiology | Humans | Risk Factors | Stroke - diagnosis | Adolescent | Male | Treatment Outcome | Metabolic Syndrome - complications | Stroke - therapy | Aneurysms
Journal Article
Developmental Medicine & Child Neurology, ISSN 0012-1622, 01/2016, Volume 58, Issue 1, pp. 63 - 69
Journal Article
Archives of Disease in Childhood: Education and Practice Edition, ISSN 1743-0585, 2018, p. edpract-2018-315903
A previously well 15-year-old boy presented to the emergency department with sudden-onset severe back pain and inability to weight bear. Preceding this event,... 
Aortic dissection | Collagen disorders | Flaccid paralysis | Vascular ehlers danlos
Journal Article
Heart, ISSN 1355-6037, 02/2015, Volume 101, Issue 3, p. 165
Journal Article
Paediatrics and Child Health, ISSN 1751-7222, 05/2015, Volume 25, Issue 5, pp. 245 - 248
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
Journal Article
Neurology, ISSN 0028-3878, 02/2018, Volume 90, Issue 9, pp. e763 - e770
OBJECTIVETo describe characteristics and course of a large UK cohort of children with moyamoya from multiple centers and examine prognostic predictors.... 
EPIDEMIOLOGIC FEATURES | SURGERY | ARTERIOPATHIES | STROKE | REVASCULARIZATION | DISEASE | CHILDHOOD MOYAMOYA | SURGICAL-TREATMENT | CLINICAL NEUROLOGY | EUROPEANS | CHILDREN
Journal Article
by Hadinnapola, Charaka and Hadinnapola, Charaka and Bleda, Marta and Bleda, Marta and Haimel, Matthias and Haimel, Matthias and Screaton, Nicholas and Screaton, Nicholas and Swift, Andrew and Swift, Andrew and Dorfmüller, Peter and Dorfmüller, Peter and Preston, Stephen D and Preston, Stephen D and Southwood, Mark and Southwood, Mark and Hernandez-Sanchez, Jules and Hernandez-Sanchez, Jules and Martin, Jennifer and Martin, Jennifer and Treacy, Carmen and Treacy, Carmen and Yates, Katherine and Yates, Katherine and Bogaard, Harm and Bogaard, Harm and Church, Colin and Church, Colin and Coghlan, Gerry and Coghlan, Gerry and Condliffe, Robin and Condliffe, Robin and Corris, Paul A and Corris, Paul A and Gibbs, Simon and Gibbs, Simon and Girerd, Barbara and Girerd, Barbara and Holden, Simon and Holden, Simon and Humbert, Marc and Humbert, Marc and Kiely, David G and Kiely, David G and Lawrie, Allan and Lawrie, Allan and Machado, Rajiv and Machado, Rajiv and MacKenzie Ross, Robert and Ross, Robert Mackenzie and Moledina, Shahin and Moledina, Shahin and Montani, David and Montani, David and Newnham, Michael and Newnham, Michael and Peacock, Andrew and Peacock, Andrew and Pepke-Zaba, Joanna and Pepke-Zaba, Joanna and Rayner-Matthews, Paula and Rayner-Matthews, Paula and Shamardina, Olga and Shamardina, Olga and Soubrier, Florent and Soubrier, Florent and Southgate, Laura and Southgate, Laura and Suntharalingam, Jay and Suntharalingam, Jay and Toshner, Mark and Toshner, Mark and Trembath, Richard and Trembath, Richard and Noordegraaf, Anton Vonk and Vonk Noordegraaf, Anton and Wilkins, Martin R and Wilkins, Martin R and Wort, Stephen J and Wort, Stephen J and Wharton, John and Wharton, John and Gräf, Stefan and Gräf, Stefan and Morrell, Nicholas W and Morrell, Nicholas W and UK Natl Cohort Study Idiopathic He and BioResource-Rare Dis Consortium and NIHR BioResource–Rare Diseases Consortium; UK National Cohort Study of Idiopathic and Heritable PAH
Circulation, ISSN 0009-7322, 11/2017, Volume 136, Issue 21, pp. 2022 - 2033
Journal Article
by Whitworth, James and Smith, Philip S and Smith, Kenneth G.C and Martin, Jose-Ezequiel and Martin, Jennifer and West, Hannah and Luchetti, Andrea and Rodger, Faye and Clark, Graeme and Carss, Keren and Stephens, Jonathan and Stirrups, Kathleen and Penkett, Christopher J and Penkett, Chris and Mapeta, Rutendo and Ashford, Sofie and Megy, Karyn and Shakeel, Hassan and Ahmed, Munaza and Adlard, Julian and Barwell, Julian and Brewer, Carole and Casey, Ruth T and Armstrong, Ruth and Cole, Trevor and Evans, Dafydd Gareth and Fostira, Florentia and Greenhalgh, Alan and Greenhalgh, Lynn and Hanson, Helen and Henderson, Alex and Henderson, Robert and Hoffman, Jonathan and Izatt, Louise and Kumar, Ajith and Kwong, Ava and Lalloo, Fiona and Ong, Kai Ren and Paterson, Joan and Park, Soo-Mi and Chen-Shtoyerman, Rakefet and Searle, Claire and Side, Lucy and Skytte, Anne-Bine and Snape, Katie and Woodward, Emma R and Aitman, Timothy and Alachkar, Hana and Ali, Sonia and Allen, Louise and Allen, Hana Lango and Allsup, David and Ambegaonkar, Gautum and Anderson, Julie and Antrobus, Richard and Arno, Gavin and Arumugakani, Gururaj and Astle, William and Attwood, Antony and Austin, Steve and Bacchelli, Chiara and Bakchoul, Tamam and Bariana, Tadbir K and Baxendale, Helen and Bennett, David and Bethune, Claire and Bibi, Shahnaz and Bitner-Glindzicz, Maria and Bleda, Marta and Boggard, Harm and Bolton-Maggs, Paula and Booth, Claire and Bradley, John R and Brady, Angie and Brown, Matthew and Browning, Michael and Bryson, Christine and Burns, Siobhan and Calleja, Paul and Canham, Natalie and Carmichael, Jenny and Caulfield, Mark and Chalmers, Elizabeth and Chandra, Anita and Chinnery, Patrick and Chitre, Manali and Church, Colin and Clement, Emma and Clements-Brod, Naomi and Clowes, Virginia and Coghlan, Gerry and Collins, Peter and Cookson, Victoria and Cooper, Nichola and Corris, Paul and Creaser-Myers, Amanda and DaCosta, Rosa and Daugherty, Louise and Davies, Sophie and Davis, John and ... and NIHR BioResource Rare Dis Consorti and NIHR BioResource Rare Diseases Consortium
The American Journal of Human Genetics, ISSN 0002-9297, 07/2018, Volume 103, Issue 1, pp. 3 - 18
Multiple primary tumors (MPTs) affect a substantial proportion of cancer survivors and can result from various causes, including inherited predisposition.... 
inherited cancer genetics | genetic testing | whole-genome sequencing | cancer-predisposition syndromes | BREAST-CANCER | GERMLINE MUTATIONS | FRAMEWORK | RISK | FAMILIES | GENETICS & HEREDITY | Usage | Genetic aspects | Research | Diagnosis | Genetic screening | Tumors | Cancer
Journal Article