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New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis.
J Clin Med. 2020 Jul 9;9(7):2168. doi: 10.3390/jcm9072168.
J Clin Med. 2020.
PMID: 32659924
Free PMC article.
The Genetic Approach: Next-Generation Sequencing-Based Diagnosis of Congenital and Infantile Myopathies/Muscle Dystrophies.
Kress W, Rost S, Kolokotronis K, Meng G, Pluta N, Müller-Reible C.
Kress W, et al. Among authors: pluta n.
Neuropediatrics. 2017 Aug;48(4):242-246. doi: 10.1055/s-0037-1602660. Epub 2017 May 8.
Neuropediatrics. 2017.
PMID: 28482373
Review.
No abstract available.
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A case report of Sanfilippo syndrome - the long way to diagnosis.
Lorenz D, Musacchio T, Kunstmann E, Grauer E, Pluta N, Stock A, Speer CP, Hebestreit H.
Lorenz D, et al. Among authors: pluta n.
BMC Neurol. 2022 Mar 15;22(1):93. doi: 10.1186/s12883-022-02611-7.
BMC Neurol. 2022.
PMID: 35291973
Free PMC article.
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Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy.
Pluta N, Hoffjan S, Zimmer F, Köhler C, Lücke T, Mohr J, Vorgerd M, Nguyen HHP, Atlan D, Wolf B, Zaum AK, Rost S.
Pluta N, et al.
Genes (Basel). 2022 Sep 28;13(10):1752. doi: 10.3390/genes13101752.
Genes (Basel). 2022.
PMID: 36292638
Free PMC article.
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Whole-Genome Sequencing Identified New Structural Variations in the DMD Gene That Cause Duchenne Muscular Dystrophy in Two Girls.
Pluta N, von Moers A, Pechmann A, Stenzel W, Goebel HH, Atlan D, Wolf B, Nanda I, Zaum AK, Rost S.
Pluta N, et al.
Int J Mol Sci. 2023 Sep 1;24(17):13567. doi: 10.3390/ijms241713567.
Int J Mol Sci. 2023.
PMID: 37686372
Free PMC article.
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Unsuccessful Osteochondral Allograft Cap to Prevent Overgrowth in a Pediatric Patient with Previous Transtibial Amputation: A Case Report.
Pluta NA, Harrington CJ, Smith DG, Gantsoudes GD.
Pluta NA, et al.
JBJS Case Connect. 2023 Apr 24;13(2). doi: 10.2106/JBJS.CC.22.00650. eCollection 2023 Apr 1.
JBJS Case Connect. 2023.
PMID: 37094026
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Genomic Conflicts that Cause Pollen Mortality and Raise Reproductive Barriers in Arabidopsis thaliana.
Simon M, Durand S, Pluta N, Gobron N, Botran L, Ricou A, Camilleri C, Budar F.
Simon M, et al. Among authors: pluta n.
Genetics. 2016 Jul;203(3):1353-67. doi: 10.1534/genetics.115.183707. Epub 2016 May 6.
Genetics. 2016.
PMID: 27182945
Free PMC article.
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