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Genetic and phenotypic spectrum in the NONO-associated syndromic disorder.
Am J Med Genet A. 2023 Feb;191(2):469-478. doi: 10.1002/ajmg.a.63044. Epub 2022 Nov 25.
Am J Med Genet A. 2023.
PMID: 36426740
Review.
Case report: Complete paternal isodisomy on chromosome 18 induces methylation changes in PARD6G-AS1 promotor in a case with arthrogryposis.
Moch J, Radtke M, Gburek-Augustat J, Karnstedt M, Schönnagel S, Drukewitz SH, Pilgram L, Hentschel J, Schumann I.
Moch J, et al. Among authors: karnstedt m.
Front Genet. 2023 Dec 21;14:1297754. doi: 10.3389/fgene.2023.1297754. eCollection 2023.
Front Genet. 2023.
PMID: 38188501
Free PMC article.
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Die GfH-Juniorakademie 2023 – #GfHJAK23 @schlossbuchenau.
Krey I, Ahting S, Forstner A, Korte M, Meyer R, Schnabel F, Pieh D, Karnstedt M.
Krey I, et al. Among authors: karnstedt m.
Med Genet. 2023 Dec 5;35(4):327-330. doi: 10.1515/medgen-2023-2058. eCollection 2023 Dec.
Med Genet. 2023.
PMID: 38841543
German.
No abstract available.
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