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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 3
2007 2
2008 2
2009 5
2010 5
2011 6
2012 4
2013 5
2014 8
2015 2
2016 1
2017 4
2018 5
2019 1
2020 4
2021 6
2022 9
2023 2
2024 1

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60 results

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Page 1
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.
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
Family and community resilience: a Photovoice study.
Tan Y, Pinder D, Bayoumi I, Carter R, Cole M, Jackson L, Watson A, Knox B, Chan-Nguyen S, Ford M, Davison CM, Bartels SA, Purkey E. Tan Y, et al. Int J Equity Health. 2024 Mar 19;23(1):62. doi: 10.1186/s12939-024-02142-2. Int J Equity Health. 2024. PMID: 38504281 Free PMC article.
Autoimmunity Is a Significant Feature of Idiopathic Pulmonary Arterial Hypertension.
Jones RJ, De Bie EMDD, Groves E, Zalewska KI, Swietlik EM, Treacy CM, Martin JM, Polwarth G, Li W, Guo J, Baxendale HE, Coleman S, Savinykh N, Coghlan JG, Corris PA, Howard LS, Johnson MK, Church C, Kiely DG, Lawrie A, Lordan JL, Mackenzie Ross RV, Pepke Zaba J, Wilkins MR, Wort SJ, Fiorillo E, Orrù V, Cucca F, Rhodes CJ, Gräf S, Morrell NW, McKinney EF, Wallace C, Toshner M; UK National Cohort Study of Idiopathic and Heritable PAH Consortium. Jones RJ, et al. Am J Respir Crit Care Med. 2022 Jul 1;206(1):81-93. doi: 10.1164/rccm.202108-1919OC. Am J Respir Crit Care Med. 2022. PMID: 35316153 Free PMC article.
Discovery of dual GyrB/ParE inhibitors active against Gram-negative bacteria.
Ho SY, Wang W, Ng FM, Wong YX, Poh ZY, Tan SWE, Ang SH, Liew SS, Joyner Wong YS, Tan Y, Poulsen A, Pendharkar V, Sangthongpitag K, Manchester J, Basarab G, Hill J, Keller TH, Cherian J. Ho SY, et al. Among authors: tan y. Eur J Med Chem. 2018 Sep 5;157:610-621. doi: 10.1016/j.ejmech.2018.08.025. Epub 2018 Aug 11. Eur J Med Chem. 2018. PMID: 30125722
60 results