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Immune tolerance induction in severe haemophilia A: A UKHCDO inhibitor and paediatric working party consensus update.
Hart DP, Alamelu J, Bhatnagar N, Biss T, Collins PW, Hall G, Hay C, Liesner R, Makris M, Mathias M, Motwani J, Palmer B, Payne J, Percy C, Richards M, Riddell A, Talks K, Tunstall O, Chalmers E. Hart DP, et al. Among authors: payne j. Haemophilia. 2021 Nov;27(6):932-937. doi: 10.1111/hae.14381. Epub 2021 Aug 17. Haemophilia. 2021. PMID: 34403546
Venous thromboembolism occurring during adolescence.
Biss T, Alikhan R, Payne J, Alamelu J, Williams M, Richards M, Mathias M, Tunstall O, Chalmers E. Biss T, et al. Among authors: payne j. Arch Dis Child. 2016 May;101(5):427-32. doi: 10.1136/archdischild-2015-309875. Epub 2016 Jan 19. Arch Dis Child. 2016. PMID: 26787610
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium; Webster AR, Raymond FL. Carss KJ, et al. Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29. Am J Hum Genet. 2017. PMID: 28041643 Free PMC article.
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.
Arno G, Carss KJ, Hull S, Zihni C, Robson AG, Fiorentino A; UK Inherited Retinal Disease Consortium; Hardcastle AJ, Holder GE, Cheetham ME, Plagnol V; NIHR Bioresource - Rare Diseases Consortium; Moore AT, Raymond FL, Matter K, Balda MS, Webster AR. Arno G, et al. Am J Hum Genet. 2017 Feb 2;100(2):334-342. doi: 10.1016/j.ajhg.2016.12.014. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132693 Free PMC article.
First-line immune tolerance induction for children with severe haemophilia A: A protocol from the UK Haemophilia Centre Doctors' Organisation Inhibitor and Paediatric Working Parties.
Collins P, Chalmers E, Alamelu J, Hay C, Liesner R, Makris M, Mathias M, Payne J, Rangarajan S, Richards M, Talks K, Tunstall O, Williams M, Hart DP. Collins P, et al. Among authors: payne j. Haemophilia. 2017 Sep;23(5):654-659. doi: 10.1111/hae.13264. Epub 2017 Jun 2. Haemophilia. 2017. PMID: 28574205 No abstract available.
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.
Hadinnapola C, Bleda M, Haimel M, Screaton N, Swift A, Dorfmüller P, Preston SD, Southwood M, Hernandez-Sanchez J, Martin J, Treacy C, Yates K, Bogaard H, Church C, Coghlan G, Condliffe R, Corris PA, Gibbs S, Girerd B, Holden S, Humbert M, Kiely DG, Lawrie A, Machado R, MacKenzie Ross R, Moledina S, Montani D, Newnham M, Peacock A, Pepke-Zaba J, Rayner-Matthews P, Shamardina O, Soubrier F, Southgate L, Suntharalingam J, Toshner M, Trembath R, Vonk Noordegraaf A, Wilkins MR, Wort SJ, Wharton J; NIHR BioResource–Rare Diseases Consortium; UK National Cohort Study of Idiopathic and Heritable PAH; Gräf S, Morrell NW. Hadinnapola C, et al. Circulation. 2017 Nov 21;136(21):2022-2033. doi: 10.1161/CIRCULATIONAHA.117.028351. Epub 2017 Sep 28. Circulation. 2017. PMID: 28972005 Free PMC article.
Intracranial haemorrhage in children with inherited bleeding disorders in the UK 2003-2015: A national cohort study.
Chalmers EA, Alamelu J, Collins PW, Mathias M, Payne J, Richards M, Tunstall O, Williams M, Palmer B, Mumford A; Paediatric & Rare Disorders Working Parties of the UK Haemophilia Doctors Organization. Chalmers EA, et al. Among authors: payne j. Haemophilia. 2018 Jul;24(4):641-647. doi: 10.1111/hae.13461. Epub 2018 Apr 10. Haemophilia. 2018. PMID: 29635852 Free article.
2,249 results