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

Year Number of Results
1987 1
1988 1
1989 1
1993 2
2000 1
2006 2
2010 1
2011 1
2013 1
2014 1
2015 1
2016 1
2017 2
2018 1
2019 1
2020 3
2022 1
2024 0

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PubMed (Bookshelf cited) for id: 468543

21 results

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Page 1
Natural History of Adult Patients with GM2 Gangliosidosis.
Masingue M, Dufour L, Lenglet T, Saleille L, Goizet C, Ayrignac X, Ory-Magne F, Barth M, Lamari F, Mandia D, Caillaud C, Nadjar Y. Masingue M, et al. Ann Neurol. 2020 Apr;87(4):609-617. doi: 10.1002/ana.25689. Epub 2020 Feb 7. Ann Neurol. 2020. PMID: 31995250
Parental influence on human germline de novo mutations in 1,548 trios from Iceland.
Jónsson H, Sulem P, Kehr B, Kristmundsdottir S, Zink F, Hjartarson E, Hardarson MT, Hjorleifsson KE, Eggertsson HP, Gudjonsson SA, Ward LD, Arnadottir GA, Helgason EA, Helgason H, Gylfason A, Jonasdottir A, Jonasdottir A, Rafnar T, Frigge M, Stacey SN, Th Magnusson O, Thorsteinsdottir U, Masson G, Kong A, Halldorsson BV, Helgason A, Gudbjartsson DF, Stefansson K. Jónsson H, et al. Nature. 2017 Sep 28;549(7673):519-522. doi: 10.1038/nature24018. Epub 2017 Sep 20. Nature. 2017. PMID: 28959963
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.
21 results