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Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1977 1
1991 1
1995 1
1997 1
1998 1
1999 2
2001 1
2002 1
2005 1
2006 2
2008 2
2015 1
2017 1
2023 0

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PubMed Links for Bookshelf ID: 1521768

16 results

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Page 1
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Richards S, et al. Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5. Genet Med. 2015. PMID: 25741868 Free PMC article.
Mitochondrial disorders in the nervous system.
DiMauro S, Schon EA. DiMauro S, et al. Annu Rev Neurosci. 2008;31:91-123. doi: 10.1146/annurev.neuro.30.051606.094302. Annu Rev Neurosci. 2008. PMID: 18333761 Review.
Pyruvate carboxylase deficiency--insights from liver transplantation.
Nyhan WL, Khanna A, Barshop BA, Naviaux RK, Precht AF, Lavine JE, Hart MA, Hainline BE, Wappner RS, Nichols S, Haas RH. Nyhan WL, et al. Mol Genet Metab. 2002 Sep-Oct;77(1-2):143-9. doi: 10.1016/s1096-7192(02)00123-3. Mol Genet Metab. 2002. PMID: 12359142
16 results