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

Year Number of Results
1975 1
1976 2
1977 1
1978 2
1979 2
1981 1
1982 2
1983 1
1987 1
1989 1
1990 2
1991 2
1992 8
1993 3
1994 4
1995 1
1996 6
1997 6
1998 1
1999 3
2000 7
2001 3
2002 5
2003 6
2004 6
2005 7
2006 15
2007 10
2008 15
2009 13
2010 10
2011 7
2012 15
2013 8
2014 17
2015 14
2016 13
2017 14
2018 21
2019 24
2020 37
2021 39
2022 47
2023 44
2024 48
2025 50
2026 2

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489 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.
Here, we present findings from a cohort of 722 individuals with inherited retinal disease, who have had whole-genome sequencing (n = 605), whole-exome sequencing (n = 72), or both (n = 45) performed, as part of the NIHR-BioResource Rare Diseases research stud …
Here, we present findings from a cohort of 722 individuals with inherited retinal disease, who have had whole-genome sequencing (n = …
A blood atlas of COVID-19 defines hallmarks of disease severity and specificity.
COvid-19 Multi-omics Blood ATlas (COMBAT) Consortium. Electronic address: julian.knight@well.ox.ac.uk; COvid-19 Multi-omics Blood ATlas (COMBAT) Consortium. COvid-19 Multi-omics Blood ATlas (COMBAT) Consortium. Electronic address: julian.knight@well.ox.ac.uk, et al. Cell. 2022 Mar 3;185(5):916-938.e58. doi: 10.1016/j.cell.2022.01.012. Epub 2022 Jan 21. Cell. 2022. PMID: 35216673 Free PMC article.
Folate concentrations and serum perfluoroalkyl and polyfluoroalkyl substance concentrations in adolescents and adults in the USA (National Health and Nutrition Examination Study 2003-16): an observational study.
Zhang Y, Mustieles V, Wang YX, Sun Y, Agudelo J, Bibi Z, Torres N, Oulhote Y, Slitt A, Messerlian C. Zhang Y, et al. Lancet Planet Health. 2023 Jun;7(6):e449-e458. doi: 10.1016/S2542-5196(23)00088-8. Lancet Planet Health. 2023. PMID: 37286242 Free PMC article.
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.
Fujinami K, Strauss RW, Chiang JP, Audo IS, Bernstein PS, Birch DG, Bomotti SM, Cideciyan AV, Ervin AM, Marino MJ, Sahel JA, Mohand-Said S, Sunness JS, Traboulsi EI, West S, Wojciechowski R, Zrenner E, Michaelides M, Scholl HPN; ProgStar Study Group; ProgStar Study Group. Fujinami K, et al. Br J Ophthalmol. 2019 Mar;103(3):390-397. doi: 10.1136/bjophthalmol-2018-312064. Epub 2018 Jun 20. Br J Ophthalmol. 2019. PMID: 29925512 Free PMC article.
Trial of Thrombectomy for Stroke with a Large Infarct of Unrestricted Size.
Costalat V, Jovin TG, Albucher JF, Cognard C, Henon H, Nouri N, Gory B, Richard S, Marnat G, Sibon I, Di Maria F, Annan M, Boulouis G, Cardona P, Obadia M, Piotin M, Bourcier R, Guillon B, Godard S, Pasco-Papon A, Eker OF, Cho TH, Turc G, Naggara O, Velasco S, Lamy M, Clarençon F, Alamowitch S, Renu A, Suissa L, Brunel H, Gentric JC, Timsit S, Lamy C, Chivot C, Macian-Montoro F, Mounayer C, Ozkul-Wermester O, Papagiannaki C, Wolff V, Pop R, Ferrier A, Chabert E, Ricolfi F, Béjot Y, Lopez-Cancio E, Vega P, Spelle L, Denier C, Millán M, Arenillas JF, Mazighi M, Houdart E, Del Mar Freijo M, Duhamel A, Sanossian N, Liebeskind DS, Labreuche J, Lapergue B, Arquizan C; LASTE Trial Investigators. Costalat V, et al. N Engl J Med. 2024 May 9;390(18):1677-1689. doi: 10.1056/NEJMoa2314063. N Engl J Med. 2024. PMID: 38718358 Clinical Trial.
Assessing performance of the Healthcare Access and Quality Index, overall and by select age groups, for 204 countries and territories, 1990-2019: a systematic analysis from the Global Burden of Disease Study 2019.
GBD 2019 Healthcare Access and Quality Collaborators. GBD 2019 Healthcare Access and Quality Collaborators. Lancet Glob Health. 2022 Dec;10(12):e1715-e1743. doi: 10.1016/S2214-109X(22)00429-6. Epub 2022 Oct 6. Lancet Glob Health. 2022. PMID: 36209761 Free PMC article.
Neuroimaging of Infectious Vasculopathy.
Nunes RH, Corrêa DG, Pacheco FT, Fonseca APA, Hygino da Cruz LC Jr, da Rocha AJ. Nunes RH, et al. Neuroimaging Clin N Am. 2024 Feb;34(1):93-111. doi: 10.1016/j.nic.2023.07.006. Epub 2023 Oct 8. Neuroimaging Clin N Am. 2024. PMID: 37951708 Review.
Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015.
Shay JW, Homma N, Zhou R, Naseer MI, Chaudhary AG, Al-Qahtani M, Hirokawa N, Goudarzi M, Fornace AJ Jr, Baeesa S, Hussain D, Bangash M, Alghamdi F, Schulten HJ, Carracedo A, Khan I, Qashqari H, Madkhali N, Saka M, Saini KS, Jamal A, Al-Maghrabi J, Abuzenadah A, Chaudhary A, Al Qahtani M, Damanhouri G, Alkhatabi H, Goodeve A, Crookes L, Niksic N, Beauchamp N, Abuzenadah AM, Vaught J, Budowle B, Assidi M, Buhmeida A, Al-Maghrabi J, Buhmeida A, Assidi M, Merdad L, Kumar S, Miura S, Gomez K, Carracedo A, Rasool M, Rebai A, Karim S, Eldin HFN, Abusamra H, Alhathli EM, Salem N, Al-Qahtani MH, Kumar S, Faheem H, Agarwa A, Nieschlag E, Wistuba J, Damm OS, Beg MA, Abdel-Meguid TA, Mosli HA, Bajouh OS, Abuzenadah AM, Al-Qahtani MH, Coskun S, Abu-Elmagd M, Buhmeida A, Dallol A, Al-Maghrabi J, Hakamy S, Al-Qahtani W, Al-Harbi A, Hussain S, Assidi M, Al-Qahtani M, Abuzenadah A, Ozkosem B, DuBois R, Messaoudi SS, Dandana MT, Mahjoub T, Almawi WY, Abdalla S, Al-Aama MN, Elzawahry A, Takahashi T, Mimaki S, Furukawa E, Nakatsuka R, Kurosaka I, Nishigaki T, Nakamura H, Serada S, Naka T, Hirota S, Shibata T, Tsuchihara K, Nishida T, Kato M, Mehmood S, Ashraf NM, Asif A, Bilal M, Mehmood MS, Hussain … See abstract for full author list ➔ Shay JW, et al. BMC Genomics. 2016 Jul 20;17 Suppl 6(Suppl 6):487. doi: 10.1186/s12864-016-2858-0. BMC Genomics. 2016. PMID: 27454254 Free PMC article.
Awan P34 Comparative genomics and network-based analyses of early hepatocellular carcinoma Ibrahim Hamza Kaya, Olfat Al-Harazi, Dilek Colak P35 A TALEN-based oncolytic viral vector approach to knock out ABCB1 gene mediated chemoresistance in cancer stem cells Nabila A Alkousi, Ta …
Awan P34 Comparative genomics and network-based analyses of early hepatocellular carcinoma Ibrahim Hamza Kaya, Olfat Al-Harazi, Dilek Colak …
Microcytic anemia.
Aviner S, Armoni-Sivan R, Bibi H. Aviner S, et al. N Engl J Med. 2014 Dec 25;371(26):2536. doi: 10.1056/NEJMc1413161. N Engl J Med. 2014. PMID: 25539122 No abstract available.
489 results