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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2019 | 1 |
2020 | 3 |
2023 | 1 |
2024 | 0 |
Search Results
5 results
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Page 1
Whole-genome sequencing of patients with rare diseases in a national health system.
Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24.
Nature. 2020.
PMID: 32581362
Free PMC article.
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L, Collins J, Sims MC, Barrio-Hernandez I, Sun L, Burren OS, Perfetto L, Bender I, Callahan TJ, Fleming K, Guerrero JA, Hermjakob H, Martin MJ, Stephenson J, Paneerselvam K, Petrovski S, Porras P, Robinson PN, Wang Q, Watkins X, Frontini M, Laskowski RA, Beltrao P, Di Angelantonio E, Gomez K, Laffan M, Ouwehand WH, Mumford AD, Freson K, Carss K, Downes K, Gleadall N, Megy K, Bruford E, Vuckovic D.
Stefanucci L, et al.
Blood. 2023 Dec 14;142(24):2055-2068. doi: 10.1182/blood.2023020118.
Blood. 2023.
PMID: 37647632
Free PMC article.
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Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.
Lentaigne C, Greene D, Sivapalaratnam S, Favier R, Seyres D, Thys C, Grassi L, Mangles S, Sibson K, Stubbs M, Burden F, Bordet JC, Armari-Alla C, Erber W, Farrow S, Gleadall N, Gomez K, Megy K, Papadia S, Penkett CJ, Sims MC, Stefanucci L, Stephens JC, Read RJ, Stirrups KE, Ouwehand WH, Laffan MA; NIHR BioResource; Frontini M, Freson K, Turro E.
Lentaigne C, et al.
Blood. 2019 Dec 5;134(23):2070-2081. doi: 10.1182/blood.2019000782.
Blood. 2019.
PMID: 31217188
Free article.
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The role of haematological traits in risk of ischaemic stroke and its subtypes.
Harshfield EL, Sims MC, Traylor M, Ouwehand WH, Markus HS.
Harshfield EL, et al.
Brain. 2020 Jan 1;143(1):210-221. doi: 10.1093/brain/awz362.
Brain. 2020.
PMID: 31755939
Free PMC article.
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Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.
Sims MC, Mayer L, Collins JH, Bariana TK, Megy K, Lavenu-Bombled C, Seyres D, Kollipara L, Burden FS, Greene D, Lee D, Rodriguez-Romera A, Alessi MC, Astle WJ, Bahou WF, Bury L, Chalmers E, Da Silva R, De Candia E, Deevi SVV, Farrow S, Gomez K, Grassi L, Greinacher A, Gresele P, Hart D, Hurtaud MF, Kelly AM, Kerr R, Le Quellec S, Leblanc T, Leinøe EB, Mapeta R, McKinney H, Michelson AD, Morais S, Nugent D, Papadia S, Park SJ, Pasi J, Podda GM, Poon MC, Reed R, Sekhar M, Shalev H, Sivapalaratnam S, Steinberg-Shemer O, Stephens JC, Tait RC, Turro E, Wu JKM, Zieger B; NIHR BioResource; Kuijpers TW, Whetton AD, Sickmann A, Freson K, Downes K, Erber WN, Frontini M, Nurden P, Ouwehand WH, Favier R, Guerrero JA.
Sims MC, et al.
Blood. 2020 Oct 22;136(17):1956-1967. doi: 10.1182/blood.2019004776.
Blood. 2020.
PMID: 32693407
Free PMC article.
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