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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1998 | 1 |
2000 | 1 |
2003 | 1 |
2004 | 1 |
2007 | 1 |
2018 | 2 |
2024 | 0 |
Search Results
6 results
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Page 1
Mutant WD-repeat protein in triple-A syndrome.
Nat Genet. 2000 Nov;26(3):332-5. doi: 10.1038/81642.
Nat Genet. 2000.
PMID: 11062474
Three children with triple A syndrome due to a mutation (R478X) in the AAAS gene.
Yuksel B, Braun R, Topaloglu AK, Mungan NO, Ozer G, Huebner A.
Yuksel B, et al.
Horm Res. 2004;61(1):3-6. doi: 10.1159/000075190. Epub 2003 Nov 27.
Horm Res. 2004.
PMID: 14646395
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Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases.
Singh K, Puri RD, Bhai P, Arya AD, Chawla G, Saxena R, Verma IC.
Singh K, et al.
J Pediatr Endocrinol Metab. 2018 Jul 26;31(7):799-807. doi: 10.1515/jpem-2018-0023.
J Pediatr Endocrinol Metab. 2018.
PMID: 29874194
Free article.
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Triple A syndrome presenting as complicated hereditary spastic paraplegia.
Leveille E, Gonorazky HD, Rioux MF, Hazrati LN, Ruskey JA, Carnevale A, Spiegelman D, Dionne-Laporte A, Rouleau GA, Yoon G, Gan-Or Z.
Leveille E, et al.
Mol Genet Genomic Med. 2018 Nov;6(6):1134-1139. doi: 10.1002/mgg3.492. Epub 2018 Oct 31.
Mol Genet Genomic Med. 2018.
PMID: 30381913
Free PMC article.
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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.
Buratti E, Chivers M, Královicová J, Romano M, Baralle M, Krainer AR, Vorechovsky I.
Buratti E, et al.
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.
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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
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