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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1998 | 1 |
2003 | 1 |
2007 | 1 |
2011 | 1 |
2012 | 1 |
2024 | 0 |
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Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.
Nucleic Acids Res. 2007;35(13):4250-63. doi: 10.1093/nar/gkm402. Epub 2007 Jun 18.
Nucleic Acids Res. 2007.
PMID: 17576681
Free PMC article.
Statistical features of human exons and their flanking regions.
Zhang MQ.
Zhang MQ.
Hum Mol Genet. 1998 May;7(5):919-32. doi: 10.1093/hmg/7.5.919.
Hum Mol Genet. 1998.
PMID: 9536098
Item in Clipboard
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.
Olbrich H, Fliegauf M, Hoefele J, Kispert A, Otto E, Volz A, Wolf MT, Sasmaz G, Trauer U, Reinhardt R, Sudbrak R, Antignac C, Gretz N, Walz G, Schermer B, Benzing T, Hildebrandt F, Omran H.
Olbrich H, et al.
Nat Genet. 2003 Aug;34(4):455-9. doi: 10.1038/ng1216.
Nat Genet. 2003.
PMID: 12872122
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Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
Chaki M, Hoefele J, Allen SJ, Ramaswami G, Janssen S, Bergmann C, Heckenlively JR, Otto EA, Hildebrandt F.
Chaki M, et al.
Kidney Int. 2011 Dec;80(11):1239-45. doi: 10.1038/ki.2011.284. Epub 2011 Aug 24.
Kidney Int. 2011.
PMID: 21866095
Free PMC article.
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High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing.
Halbritter J, Diaz K, Chaki M, Porath JD, Tarrier B, Fu C, Innis JL, Allen SJ, Lyons RH, Stefanidis CJ, Omran H, Soliman NA, Otto EA.
Halbritter J, et al.
J Med Genet. 2012 Dec;49(12):756-67. doi: 10.1136/jmedgenet-2012-100973.
J Med Genet. 2012.
PMID: 23188109
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