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Page 1
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6.
Nature. 2020.
PMID: 32499645
Free PMC article.
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements.
Dixon PH, Levine AP, Cebola I, Chan MMY, Amin AS, Aich A, Mozere M, Maude H, Mitchell AL, Zhang J; NIHR BioResource; Genomics England Research Consortium Collaborators; Chambers J, Syngelaki A, Donnelly J, Cooley S, Geary M, Nicolaides K, Thorsell M, Hague WM, Estiu MC, Marschall HU, Gale DP, Williamson C.
Dixon PH, et al.
Nat Commun. 2022 Aug 17;13(1):4840. doi: 10.1038/s41467-022-29931-z.
Nat Commun. 2022.
PMID: 35977952
Free PMC article.
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Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study.
International Mismatch Repair Consortium.
International Mismatch Repair Consortium.
Lancet Oncol. 2021 Jul;22(7):1014-1022. doi: 10.1016/S1470-2045(21)00189-3. Epub 2021 Jun 7.
Lancet Oncol. 2021.
PMID: 34111421
Free PMC article.
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Familial Barrett's adenocarcinoma.
Melzer E, Shtoyerman R, Appelman Z, Kashtan H.
Melzer E, et al. Among authors: shtoyerman r.
Am J Gastroenterol. 2006 Mar;101(3):677. doi: 10.1111/j.1572-0241.2006.473_7.x.
Am J Gastroenterol. 2006.
PMID: 16542304
No abstract available.
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Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC.
Thaventhiran JED, et al.
Nature. 2020 Aug;584(7819):E2. doi: 10.1038/s41586-020-2556-6.
Nature. 2020.
PMID: 32678341
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Dependence of maternal serum [AFP]/[hCG] median ratios on age of gestation: comparison of trisomy 21 to euploid pregnancies.
Marcus-Braun N, Birk O, Manor E, Segal D, Harari G, Toma I, Shalev S, Borochowitz ZU, Yaron Y, Sharony R, Itzhaky D, Shtoyerman R, Appelman Z, Braun G.
Marcus-Braun N, et al. Among authors: shtoyerman r.
Prenat Diagn. 2009 Dec;29(12):1130-4. doi: 10.1002/pd.2366.
Prenat Diagn. 2009.
PMID: 19777489
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