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A linkage study in seven breast cancer families.
Teare MD, Santibáñez-Koref MF, Wallace SA, White GR, Evans DG, Burnell LD, Harris M, Howell A, Birch JM. Teare MD, et al. Among authors: birch jm. Am J Hum Genet. 1993 Apr;52(4):786-8. Am J Hum Genet. 1993. PMID: 8460644 Free PMC article.
Is CHEK2 a cause of the Li-Fraumeni syndrome?
Evans DG, Birch JM, Narod SA. Evans DG, et al. Among authors: birch jm. J Med Genet. 2008 Jan;45(1):63-4. doi: 10.1136/jmg.2007.054700. J Med Genet. 2008. PMID: 18178638 No abstract available.
Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome.
Bell DW, Varley JM, Szydlo TE, Kang DH, Wahrer DC, Shannon KE, Lubratovich M, Verselis SJ, Isselbacher KJ, Fraumeni JF, Birch JM, Li FP, Garber JE, Haber DA. Bell DW, et al. Among authors: birch jm. Science. 1999 Dec 24;286(5449):2528-31. doi: 10.1126/science.286.5449.2528. Science. 1999. PMID: 10617473
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.
Fallerini C, Picchiotti N, Baldassarri M, Zguro K, Daga S, Fava F, Benetti E, Amitrano S, Bruttini M, Palmieri M, Croci S, Lista M, Beligni G, Valentino F, Meloni I, Tanfoni M, Minnai F, Colombo F, Cabri E, Fratelli M, Gabbi C, Mantovani S, Frullanti E, Gori M, Crawley FP, Butler-Laporte G, Richards B, Zeberg H, Lipcsey M, Hultström M, Ludwig KU, Schulte EC, Pairo-Castineira E, Baillie JK, Schmidt A, Frithiof R; WES/WGS Working Group Within the HGI; GenOMICC Consortium; GEN-COVID Multicenter Study; Mari F, Renieri A, Furini S. Fallerini C, et al. Hum Genet. 2022 Jan;141(1):147-173. doi: 10.1007/s00439-021-02397-7. Epub 2021 Dec 10. Hum Genet. 2022. PMID: 34889978 Free PMC article.
253 results