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993 results

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Correcting Illumina data.
Molnar M, Ilie L. Molnar M, et al. Brief Bioinform. 2015 Jul;16(4):588-99. doi: 10.1093/bib/bbu029. Epub 2014 Sep 1. Brief Bioinform. 2015. PMID: 25183248
RACER: Rapid and accurate correction of errors in reads.
Ilie L, Molnar M. Ilie L, et al. Among authors: molnar m. Bioinformatics. 2013 Oct 1;29(19):2490-3. doi: 10.1093/bioinformatics/btt407. Epub 2013 Jul 12. Bioinformatics. 2013. PMID: 23853064
SAGE: String-overlap Assembly of GEnomes.
Ilie L, Haider B, Molnar M, Solis-Oba R. Ilie L, et al. Among authors: molnar m. BMC Bioinformatics. 2014 Sep 15;15(1):302. doi: 10.1186/1471-2105-15-302. BMC Bioinformatics. 2014. PMID: 25225118 Free PMC article.
SAGE2: parallel human genome assembly.
Molnar M, Haghshenas E, Ilie L. Molnar M, et al. Bioinformatics. 2018 Feb 15;34(4):678-680. doi: 10.1093/bioinformatics/btx648. Bioinformatics. 2018. PMID: 29045591
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial.
Karaa A, Bertini E, Carelli V, Cohen B, Ennes GM, Falk MJ, Goldstein A, Gorman G, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Abbruscato A, Brown DA, Sullivan A, Shiffer JA, Mancuso M; MMPOWER-3 Trial Investigators. Karaa A, et al. Among authors: molnar mj. Orphanet J Rare Dis. 2024 Nov 21;19(1):431. doi: 10.1186/s13023-024-03421-5. Orphanet J Rare Dis. 2024. PMID: 39574155 Free PMC article. Clinical Trial.
Transgenic rat with ubiquitous expression of angiotensin-(1-7)-producing fusion protein: a new tool to study the role of protective arm of the renin-angiotensin system in the pathophysiology of cardio-renal diseases.
Červenka L, Husková Z, Kikerlová S, Gawrys O, Vacková Š, Škaroupková P, Sadowski J, Miklovič M, Molnár M, Táborský M, Melenovský V, Bader M. Červenka L, et al. Among authors: molnar m. Hypertens Res. 2024 Nov 13. doi: 10.1038/s41440-024-01995-y. Online ahead of print. Hypertens Res. 2024. PMID: 39537982
Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease.
Kishnani PS, Byrne BJ, Claeys KG, Díaz-Manera J, Dimachkie MM, Kushlaf H, Mozaffar T, Roberts M, Schoser B, Hummel N, Kopiec A, Holdbrook F, Shohet S, Toscano A; PROPEL Study Group. Kishnani PS, et al. J Patient Rep Outcomes. 2024 Nov 13;8(1):132. doi: 10.1186/s41687-024-00805-w. J Patient Rep Outcomes. 2024. PMID: 39535661 Free PMC article. Clinical Trial.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
993 results