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A Hereditary Form of Small Intestinal Carcinoid Associated With a Germline Mutation in Inositol Polyphosphate Multikinase.
Sei Y, Zhao X, Forbes J, Szymczak S, Li Q, Trivedi A, Voellinger M, Joy G, Feng J, Whatley M, Jones MS, Harper UL, Marx SJ, Venkatesan AM, Chandrasekharappa SC, Raffeld M, Quezado MM, Louie A, Chen CC, Lim RM, Agarwala R, Schäffer AA, Hughes MS, Bailey-Wilson JE, Wank SA. Sei Y, et al. Among authors: schaffer aa. Gastroenterology. 2015 Jul;149(1):67-78. doi: 10.1053/j.gastro.2015.04.008. Epub 2015 Apr 9. Gastroenterology. 2015. PMID: 25865046 Free PMC article.
Genetic and physical mapping of the McKusick-Kaufman syndrome.
Stone DL, Agarwala R, Schäffer AA, Weber JL, Vaske D, Oda T, Chandrasekharappa SC, Francomano CA, Biesecker LG. Stone DL, et al. Among authors: schaffer aa. Hum Mol Genet. 1998 Mar;7(3):475-81. doi: 10.1093/hmg/7.3.475. Hum Mol Genet. 1998. PMID: 9467007
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.
Johnston JJ, Kelley RI, Crawford TO, Morton DH, Agarwala R, Koch T, Schäffer AA, Francomano CA, Biesecker LG. Johnston JJ, et al. Among authors: schaffer aa. Am J Hum Genet. 2000 Oct;67(4):814-21. doi: 10.1086/303089. Epub 2000 Aug 21. Am J Hum Genet. 2000. PMID: 10952871 Free PMC article.
Mutant deoxynucleotide carrier is associated with congenital microcephaly.
Rosenberg MJ, Agarwala R, Bouffard G, Davis J, Fiermonte G, Hilliard MS, Koch T, Kalikin LM, Makalowska I, Morton DH, Petty EM, Weber JL, Palmieri F, Kelley RI, Schäffer AA, Biesecker LG. Rosenberg MJ, et al. Among authors: schaffer aa. Nat Genet. 2002 Sep;32(1):175-9. doi: 10.1038/ng948. Epub 2002 Aug 19. Nat Genet. 2002. PMID: 12185364
Anabaptist genealogy database.
Agarwala R, Biesecker LG, Schäffer AA. Agarwala R, et al. Among authors: schaffer aa. Am J Med Genet C Semin Med Genet. 2003 Aug 15;121C(1):32-7. doi: 10.1002/ajmg.c.20004. Am J Med Genet C Semin Med Genet. 2003. PMID: 12888984
301 results