Sabine Rudnik
Overview
Explore the profile of Sabine Rudnik including associated specialties, affiliations and a list of published articles.
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Articles
3
Citations
42
Followers
0
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Recent Articles
1.
Krenn M, Sener M, Rath J, Zulehner G, Keritam O, Wagner M, et al.
J Neurol
. 2022 Oct;
270(2):909-916.
PMID: 36308527
Background: Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects resulting in impaired neuromuscular transmission. Although effective treatments are available, CMS is probably underdiagnosed, and...
2.
Hsieh T, Mensah M, Pantel J, Aguilar D, Bar O, Bayat A, et al.
Genet Med
. 2019 Jun;
21(12):2807-2814.
PMID: 31164752
Purpose: Phenotype information is crucial for the interpretation of genomic variants. So far it has only been accessible for bioinformatics workflows after encoding into clinical terms by expert dysmorphologists. Methods:...
3.
Soellner L, Kopp K, Mutze S, Meyer R, Begemann M, Rudnik S, et al.
J Perinat Med
. 2017 Jul;
46(2):169-173.
PMID: 28753543
Preeclampsia (PE) affects 2-5% of all pregnancies. It is a multifactorial disease, but it has been estimated that 35% of the variance in liability of PE are attributable to maternal...