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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2004 | 2 |
2005 | 1 |
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Page 1
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30.
Genet Med. 2022.
PMID: 34906502
Free article.
Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies.
Nash BM, Ma A, Ho G, Farnsworth E, Minoche AE, Cowley MJ, Barnett C, Smith JM, Loi TH, Wong K, St Heaps L, Wright D, Dinger ME, Bennetts B, Grigg JR, Jamieson RV.
Nash BM, et al. Among authors: smith jm.
Int J Mol Sci. 2022 Mar 31;23(7):3905. doi: 10.3390/ijms23073905.
Int J Mol Sci. 2022.
PMID: 35409265
Free PMC article.
Item in Clipboard
Three patients with terminal deletions within the subtelomeric region of chromosome 9q.
Neas KR, Smith JM, Chia N, Huseyin S, St Heaps L, Peters G, Sholler G, Tzioumi D, Sillence DO, Mowat D.
Neas KR, et al. Among authors: smith jm.
Am J Med Genet A. 2005 Feb 1;132A(4):425-30. doi: 10.1002/ajmg.a.30496.
Am J Med Genet A. 2005.
PMID: 15633179
Review.
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Diagnosis of Proteus syndrome was correct.
Kirk EP, Smith JM, Field M, Marshall GM, Marsh DJ.
Kirk EP, et al. Among authors: smith jm.
Am J Med Genet A. 2004 Oct 1;130A(2):214-5; author reply 216-7. doi: 10.1002/ajmg.a.30337.
Am J Med Genet A. 2004.
PMID: 15372511
No abstract available.
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Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma.
Meyer-Rochow GY, Smith JM, Richardson AL, Marsh DJ, Sidhu SB, Robinson BG, Benn DE.
Meyer-Rochow GY, et al. Among authors: smith jm.
J Surg Res. 2009 Nov;157(1):55-62. doi: 10.1016/j.jss.2008.07.043. Epub 2008 Sep 4.
J Surg Res. 2009.
PMID: 19215943
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The expanding phenotype of cystic fibrosis.
Smith JM, Kirk EP.
Smith JM, et al.
Med J Aust. 2004 Nov 1;181(9):514. doi: 10.5694/j.1326-5377.2004.tb06415.x.
Med J Aust. 2004.
PMID: 15516201
No abstract available.
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