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Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database.
Hum Mutat. 2018 Mar;39(3):345-364. doi: 10.1002/humu.23382. Epub 2018 Jan 11.
Hum Mutat. 2018.
PMID: 29250858
NSD1 duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features.
Sachwitz J, Meyer R, Fekete G, Spranger S, Matulevičienė A, Kučinskas V, Bach A, Luczay A, Brüchle NO, Eggermann K, Zerres K, Elbracht M, Eggermann T.
Sachwitz J, et al.
Clin Genet. 2017 Jan;91(1):73-78. doi: 10.1111/cge.12803. Epub 2016 Jun 30.
Clin Genet. 2017.
PMID: 27172843
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Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes.
Sachwitz J, Strobl-Wildemann G, Fekete G, Ambrozaitytė L, Kučinskas V, Soellner L, Begemann M, Eggermann T.
Sachwitz J, et al.
BMC Med Genet. 2016 Mar 11;17:20. doi: 10.1186/s12881-016-0280-8.
BMC Med Genet. 2016.
PMID: 26969265
Free PMC article.
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