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Sanfilippo syndrome type A in two adult sibs.
Lindor NM, Hoffman A, O'Brien JF, Hanson NP, Thompson JN. Lindor NM, et al. Am J Med Genet. 1994 Nov 15;53(3):241-4. doi: 10.1002/ajmg.1320530308. Am J Med Genet. 1994. PMID: 7856659
Uniparental disomy in congenital disorders: a prospective study.
Lindor NM, Karnes PS, Michels VV, Dewald GW, Goerss J, Jalal S, Jenkins RB, Vockley G, Thibodeau SN. Lindor NM, et al. Am J Med Genet. 1995 Aug 28;58(2):143-6. doi: 10.1002/ajmg.1320580210. Am J Med Genet. 1995. PMID: 8533805
De novo 16p deletion: ATR-16 syndrome.
Lindor NM, Valdes MG, Wick M, Thibodeau SN, Jalal S. Lindor NM, et al. Am J Med Genet. 1997 Nov 12;72(4):451-4. Am J Med Genet. 1997. PMID: 9375730
Guidelines for buccal smear collection in breast-fed infants.
Babovic-Vuksanovic D, Michels VV, Law ME, Bailey R, Wyatt WA, Lindor NM, Jalal SM. Babovic-Vuksanovic D, et al. Among authors: lindor nm. Am J Med Genet. 1999 Jun 4;84(4):357-60. doi: 10.1002/(sici)1096-8628(19990604)84:4<357::aid-ajmg9>3.0.co;2-4. Am J Med Genet. 1999. PMID: 10340651
Determining the frequency of de novo germline mutations in DNA mismatch repair genes.
Win AK, Jenkins MA, Buchanan DD, Clendenning M, Young JP, Giles GG, Goldblatt J, Leggett BA, Hopper JL, Thibodeau SN, Lindor NM. Win AK, et al. Among authors: lindor nm. J Med Genet. 2011 Aug;48(8):530-4. doi: 10.1136/jmedgenet-2011-100082. Epub 2011 Jun 2. J Med Genet. 2011. PMID: 21636617 Free PMC article.
387 results