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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2017 | 1 |
2020 | 1 |
2022 | 2 |
2023 | 1 |
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Page 1
The Genetic Approach: Next-Generation Sequencing-Based Diagnosis of Congenital and Infantile Myopathies/Muscle Dystrophies.
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.
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.
Item in Clipboard
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.
Item in Clipboard
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.
Item in Clipboard
New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis.
Kolokotronis K, Pluta N, Klopocki E, Kunstmann E, Messroghli D, Maack C, Tejman-Yarden S, Arad M, Rost S, Gerull B.
Kolokotronis K, et al. Among authors: pluta n.
J Clin Med. 2020 Jul 9;9(7):2168. doi: 10.3390/jcm9072168.
J Clin Med. 2020.
PMID: 32659924
Free PMC article.
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