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Mosaic trisomy 16 in a thriving infant: maternal heterodisomy for chromosome 16.
Lindor NM, Jalal SM, Thibodeau SN, Bonde D, Sauser KL, Karnes PS. Lindor NM, et al. Among authors: karnes ps. Clin Genet. 1993 Oct;44(4):185-9. doi: 10.1111/j.1399-0004.1993.tb03876.x. Clin Genet. 1993. PMID: 8261647
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. Among authors: karnes ps. Am J Med Genet. 1995 Aug 28;58(2):143-6. doi: 10.1002/ajmg.1320580210. Am J Med Genet. 1995. PMID: 8533805
Familial recurrence of tracheoesophageal fistula and associated malformations.
McMullen KP, Karnes PS, Moir CR, Michels VV. McMullen KP, et al. Among authors: karnes ps. Am J Med Genet. 1996 Jun 28;63(4):525-8. doi: 10.1002/(SICI)1096-8628(19960628)63:4<525::AID-AJMG3>3.0.CO;2-N. Am J Med Genet. 1996. PMID: 8826429
Cytogenetic testing for Williams syndrome.
Jalal SM, Crifasi PA, Karnes PS, Michels VV. Jalal SM, et al. Among authors: karnes ps. Mayo Clin Proc. 1996 Jan;71(1):67-8. doi: 10.4065/71.1.67. Mayo Clin Proc. 1996. PMID: 8538237 No abstract available.
Fluorescent in situ hybridization: use of whole chromosome paint probes to identify unbalanced chromosome translocations.
Kraker WJ, Borell TJ, Schad CR, Pennington MJ, Karnes PS, Dewald GW, Jenkins RB. Kraker WJ, et al. Among authors: karnes ps. Mayo Clin Proc. 1992 Jul;67(7):658-62. doi: 10.1016/s0025-6196(12)60721-6. Mayo Clin Proc. 1992. PMID: 1434900
Neurofibromatosis: a common neurocutaneous disorder.
Karnes PS. Karnes PS. Mayo Clin Proc. 1998 Nov;73(11):1071-6. doi: 10.4065/73.11.1071. Mayo Clin Proc. 1998. PMID: 9818041 Review.
Ordering and interpreting DNA tests.
Karnes PS. Karnes PS. Mayo Clin Proc. 1996 Dec;71(12):1192-5. doi: 10.4065/71.12.1192. Mayo Clin Proc. 1996. PMID: 8945494 Review.
Familial splenomegaly: macrophage hypercatabolism of lipoproteins associated with apolipoprotein E mutation [apolipoprotein E (delta149 Leu)].
Nguyen TT, Kruckeberg KE, O'Brien JF, Ji ZS, Karnes PS, Crotty TB, Hay ID, Mahley RW, O'Brien T. Nguyen TT, et al. Among authors: karnes ps. J Clin Endocrinol Metab. 2000 Nov;85(11):4354-8. doi: 10.1210/jcem.85.11.6981. J Clin Endocrinol Metab. 2000. PMID: 11095479
Establishment of a rhabdoid tumor cell line with a specific chromosomal abnormality, 46,XY,t(11;22)(p15.5;q11.23).
Karnes PS, Tran TN, Cui MY, Bogenmann E, Shimada H, Ying KL. Karnes PS, et al. Cancer Genet Cytogenet. 1991 Oct 1;56(1):31-8. doi: 10.1016/0165-4608(91)90359-3. Cancer Genet Cytogenet. 1991. PMID: 1747867
Initial assessment of infants and children with suspected inborn errors of metabolism.
Lindor NM, Karnes PS. Lindor NM, et al. Among authors: karnes ps. Mayo Clin Proc. 1995 Oct;70(10):987-8. doi: 10.4065/70.10.987. Mayo Clin Proc. 1995. PMID: 7564553 No abstract available.
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