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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 | 1 |
2008 | 1 |
2012 | 1 |
2017 | 1 |
2024 | 0 |
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Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.
Hum Mutat. 2004 Jan;23(1):47-56. doi: 10.1002/humu.10286.
Hum Mutat. 2004.
PMID: 14695532
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
Kroos M, Pomponio RJ, van Vliet L, Palmer RE, Phipps M, Van der Helm R, Halley D, Reuser A; GAA Database Consortium.
Kroos M, et al.
Hum Mutat. 2008 Jun;29(6):E13-26. doi: 10.1002/humu.20745.
Hum Mutat. 2008.
PMID: 18425781
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Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.
Bali DS, Goldstein JL, Banugaria S, Dai J, Mackey J, Rehder C, Kishnani PS.
Bali DS, et al.
Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):40-9. doi: 10.1002/ajmg.c.31319. Epub 2012 Jan 17.
Am J Med Genet C Semin Med Genet. 2012.
PMID: 22252923
Free PMC article.
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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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