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Items: 1 to 20 of 26

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1.

'POP'! The mystery of a skeletal dysplasia vanishes thanks to exome sequencing.

Sutton LM.

Clin Genet. 2011 Aug;80(2):134-6. doi: 10.1111/j.1399-0004.2011.01692.x. Epub 2011 May 27. No abstract available.

PMID:
21534943
2.

Factors increasing the risk for hearing loss in 'pop' musicians.

Axelsson A, Lindgren F.

Scand Audiol. 1977;6(3):127-31.

PMID:
929089
3.

'Mom & Pop' chiropractic schools in Kansas.

Gibbons RW.

Chiropr Hist. 1992 Jun;12(1):12-13. No abstract available.

PMID:
11613005
4.

Reliability of the 'pop' sign as an indicator of dural puncture.

Hull JZ, Rucklidge MW.

Anaesthesia. 2008 Jan;63(1):100; author reply 100-1. No abstract available.

5.

Pop' music festivals.

Farrow RJ.

Practitioner. 1972 Mar;208(245):380-6. No abstract available.

PMID:
5025555
6.

Getting results from safety meetings. Try the 'POP' model to make your sessions productive.

Williamsen M.

Occup Health Saf. 2003 Feb;72(2):14-6. No abstract available.

PMID:
12616909
7.

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.

Wang JL, Yang X, Xia K, Hu ZM, Weng L, Jin X, Jiang H, Zhang P, Shen L, Guo JF, Li N, Li YR, Lei LF, Zhou J, Du J, Zhou YF, Pan Q, Wang J, Wang J, Li RQ, Tang BS.

Brain. 2010 Dec;133(Pt 12):3510-8. doi: 10.1093/brain/awq323. Epub 2010 Nov 23.

PMID:
21106500
8.

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.

Gilissen C, Arts HH, Hoischen A, Spruijt L, Mans DA, Arts P, van Lier B, Steehouwer M, van Reeuwijk J, Kant SG, Roepman R, Knoers NV, Veltman JA, Brunner HG.

Am J Hum Genet. 2010 Sep 10;87(3):418-23. doi: 10.1016/j.ajhg.2010.08.004.

9.

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.

Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, Nayir A, Bakkaloğlu A, Ozen S, Sanjad S, Nelson-Williams C, Farhi A, Mane S, Lifton RP.

Proc Natl Acad Sci U S A. 2009 Nov 10;106(45):19096-101. doi: 10.1073/pnas.0910672106. Epub 2009 Oct 27.

10.

Experimental study on the effectiveness and safety of radiofrequency catheter ablation with the cooled ablation system.

Matsumoto N, Kishi R, Kasugai H, Sakurai T, Osada K, Ryu S, Arai M, Miyazu O, Watanabe Y, Kimura M, Nanke T, Nakazawa K, Kobayashi S, Miyake F.

Circ J. 2003 Feb;67(2):154-8.

11.

Targeted high throughput sequencing of a cancer-related exome subset by specific sequence capture with a fully automated microarray platform.

Summerer D, Schracke N, Wu H, Cheng Y, Bau S, Stähler CF, Stähler PF, Beier M.

Genomics. 2010 Apr;95(4):241-6. doi: 10.1016/j.ygeno.2010.01.006. Epub 2010 Feb 6.

12.

Revisiting Mendelian disorders through exome sequencing.

Ku CS, Naidoo N, Pawitan Y.

Hum Genet. 2011 Apr;129(4):351-70. doi: 10.1007/s00439-011-0964-2. Epub 2011 Feb 18. Review.

PMID:
21331778
13.

Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing.

Lalonde E, Albrecht S, Ha KC, Jacob K, Bolduc N, Polychronakos C, Dechelotte P, Majewski J, Jabado N.

Hum Mutat. 2010 Aug;31(8):918-23. doi: 10.1002/humu.21293.

PMID:
20518025
14.

[Identification in vivo of promoter activity in the left site of the att region of bacteriophage lambda DNA].

Gileva IP, Karginova EA, Mikriukov NN, Serpinskiĭ OI, Kravchenko VV.

Mol Biol (Mosk). 1988 Jan-Feb;22(1):44-54. Russian.

PMID:
2836722
15.

Exome sequencing of a multigenerational human pedigree.

Hedges DJ, Burges D, Powell E, Almonte C, Huang J, Young S, Boese B, Schmidt M, Pericak-Vance MA, Martin E, Zhang X, Harkins TT, Züchner S.

PLoS One. 2009 Dec 14;4(12):e8232. doi: 10.1371/journal.pone.0008232. Erratum in: PLoS One. 2009;4(12). doi: 10.1371/annotation/b0fe9dd5-16e1-4b50-b590-263518fbd5eb. Hedges, Dale [corrected to Hedges, Dale J].

16.

Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities.

Schrader KA, Heravi-Moussavi A, Waters PJ, Senz J, Whelan J, Ha G, Eydoux P, Nielsen T, Gallagher B, Oloumi A, Boyd N, Fernandez BA, Young TL, Jones SJ, Hirst M, Shah SP, Marra MA, Green J, Huntsman DG.

J Pathol. 2011 Sep;225(1):12-8. doi: 10.1002/path.2941.

PMID:
21792934
18.

Isolation and characterization of the novel popeye gene family expressed in skeletal muscle and heart.

Andrée B, Hillemann T, Kessler-Icekson G, Schmitt-John T, Jockusch H, Arnold HH, Brand T.

Dev Biol. 2000 Jul 15;223(2):371-82.

19.

Posterior urethral valves, pressure pop-offs and bladder function.

Kaefer M, Keating MA, Adams MC, Rink RC.

J Urol. 1995 Aug;154(2 Pt 2):708-11.

PMID:
7609159
20.

Efficacy of growth hormone therapy for patients with skeletal dysplasia.

Kanazawa H, Tanaka H, Inoue M, Yamanaka Y, Namba N, Seino Y.

J Bone Miner Metab. 2003;21(5):307-10.

PMID:
12928832

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