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Page 1
NOTCH2 mutations in Alagille syndrome.
Kamath BM, Bauer RC, Loomes KM, Chao G, Gerfen J, Hutchinson A, Hardikar W, Hirschfield G, Jara P, Krantz ID, Lapunzina P, Leonard L, Ling S, Ng VL, Hoang PL, Piccoli DA, Spinner NB. Kamath BM, et al. Among authors: gerfen j. J Med Genet. 2012 Feb;49(2):138-44. doi: 10.1136/jmedgenet-2011-100544. Epub 2011 Dec 29. J Med Genet. 2012. PMID: 22209762 Free PMC article.
Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome.
Jurkiewicz D, Gliwicz D, Ciara E, Gerfen J, Pelc M, Piekutowska-Abramczuk D, Kugaudo M, Chrzanowska K, Spinner NB, Krajewska-Walasek M. Jurkiewicz D, et al. Among authors: gerfen j. J Appl Genet. 2014 Aug;55(3):329-36. doi: 10.1007/s13353-014-0212-2. Epub 2014 Apr 20. J Appl Genet. 2014. PMID: 24748328 Free PMC article.
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.
Bauer RC, Laney AO, Smith R, Gerfen J, Morrissette JJ, Woyciechowski S, Garbarini J, Loomes KM, Krantz ID, Urban Z, Gelb BD, Goldmuntz E, Spinner NB. Bauer RC, et al. Among authors: gerfen j. Hum Mutat. 2010 May;31(5):594-601. doi: 10.1002/humu.21231. Hum Mutat. 2010. PMID: 20437614 Free PMC article.
Renal anomalies in Alagille syndrome: a disease-defining feature.
Kamath BM, Podkameni G, Hutchinson AL, Leonard LD, Gerfen J, Krantz ID, Piccoli DA, Spinner NB, Loomes KM, Meyers K. Kamath BM, et al. Among authors: gerfen j. Am J Med Genet A. 2012 Jan;158A(1):85-9. doi: 10.1002/ajmg.a.34369. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22105858 Free PMC article.
11 results