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Results by year

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

Year Number of Results
1983 1
1986 1
1991 1
1999 4
2000 2
2001 1
2002 2
2003 5
2004 7
2005 2
2009 1
2015 1
2017 2
2018 2
2019 1
2024 0

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PubMed (Bookshelf cited) for id: 203367

31 results

Results by year

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Page 1
Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene.
Žigman T, Petković Ramadža D, Lušić M, Zekušić M, Ninković D, Gardijan D, Potočki K, Omerza L, Beljan L, Žarković K, Kerkhof J, Ljubojević M, de Sain-van der Velden M, Vuković J, Fumić K, Sadiković B, Barić I. Žigman T, et al. J Pediatr Endocrinol Metab. 2018 Oct 25;31(10):1155-1159. doi: 10.1515/jpem-2017-0397. J Pediatr Endocrinol Metab. 2018. PMID: 30243016
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.
Free sialic acid storage disease without sialuria.
Mochel F, Yang B, Barritault J, Thompson JN, Engelke UF, McNeill NH, Benko WS, Kaneski CR, Adams DR, Tsokos M, Abu-Asab M, Huizing M, Seguin F, Wevers RA, Ding J, Verheijen FW, Schiffmann R. Mochel F, et al. Ann Neurol. 2009 Jun;65(6):753-7. doi: 10.1002/ana.21624. Ann Neurol. 2009. PMID: 19557856 Free PMC article.
Neurocognitive profiles in Salla disease.
Alajoki L, Varho T, Posti K, Aula P, Korhonen T. Alajoki L, et al. Dev Med Child Neurol. 2004 Dec;46(12):832-7. doi: 10.1017/s0012162204001458. Dev Med Child Neurol. 2004. PMID: 15581157 Free article.
31 results