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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1998 | 1 |
1999 | 1 |
2003 | 1 |
2005 | 1 |
2016 | 1 |
2017 | 1 |
2024 | 0 |
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6 results
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Page 1
Splicing in action: assessing disease causing sequence changes.
J Med Genet. 2005 Oct;42(10):737-48. doi: 10.1136/jmg.2004.029538.
J Med Genet. 2005.
PMID: 16199547
Free PMC article.
Review.
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.
Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, Callen DF, Gribouval O, Broyer M, Bates GP, van't Hoff W, Antignac C.
Town M, et al.
Nat Genet. 1998 Apr;18(4):319-24. doi: 10.1038/ng0498-319.
Nat Genet. 1998.
PMID: 9537412
Item in Clipboard
Cystinosis: a review.
Elmonem MA, Veys KR, Soliman NA, van Dyck M, van den Heuvel LP, Levtchenko E.
Elmonem MA, et al.
Orphanet J Rare Dis. 2016 Apr 22;11:47. doi: 10.1186/s13023-016-0426-y.
Orphanet J Rare Dis. 2016.
PMID: 27102039
Free PMC article.
Review.
Item in Clipboard
Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.
Attard M, Jean G, Forestier L, Cherqui S, van't Hoff W, Broyer M, Antignac C, Town M.
Attard M, et al.
Hum Mol Genet. 1999 Dec;8(13):2507-14. doi: 10.1093/hmg/8.13.2507.
Hum Mol Genet. 1999.
PMID: 10556299
Item in Clipboard
Mutational spectrum of the CTNS gene in Italy.
Mason S, Pepe G, Dall'Amico R, Tartaglia S, Casciani S, Greco M, Bencivenga P, Murer L, Rizzoni G, Tenconi R, Clementi M.
Mason S, et al.
Eur J Hum Genet. 2003 Jul;11(7):503-8. doi: 10.1038/sj.ejhg.5200993.
Eur J Hum Genet. 2003.
PMID: 12825071
Item in Clipboard
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group; Topper S.
Nykamp K, et al.
Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11.
Genet Med. 2017.
PMID: 28492532
Free PMC article.
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