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Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.
Hum Mol Genet. 2020 Jul 21;29(11):1772-1783. doi: 10.1093/hmg/ddz108.
Hum Mol Genet. 2020.
PMID: 31108500
A novel pathogenic CACNA1A variant causing episodic ataxia type 2 (EA2) spectrum phenotype in four family members and a novel combined therapy.
Penkava J, Ledderose S, Chahrokh-Zadeh S, Munzig A, Eulenburg Z, Huppert D, Strupp M, Becker-Bense S.
Penkava J, et al. Among authors: munzig a.
J Neurol. 2020 Dec;267(Suppl 1):181-184. doi: 10.1007/s00415-020-10190-1. Epub 2020 Sep 10.
J Neurol. 2020.
PMID: 32910250
Free PMC article.
No abstract available.
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Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters.
Willimsky EK, Munzig A, Mayer K, Biskup S, Abicht A, Hoertnagel K, Voss HV, Klein HG, Rost I, Larsen LHG, Dahl HA, Hoelz H, Stuelpnagel CV, Borggraefe I.
Willimsky EK, et al. Among authors: munzig a.
Neuropediatrics. 2021 Apr;52(2):92-97. doi: 10.1055/s-0040-1712488. Epub 2020 Oct 21.
Neuropediatrics. 2021.
PMID: 33086385
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