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Year Number of Results
2017 1
2018 2
2020 5
2021 6
2022 2
2023 7
2024 1

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21 results

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Page 1
Metals in fungal virulence.
Gerwien F, Skrahina V, Kasper L, Hube B, Brunke S. Gerwien F, et al. Among authors: skrahina v. FEMS Microbiol Rev. 2018 Jan 1;42(1):fux050. doi: 10.1093/femsre/fux050. FEMS Microbiol Rev. 2018. PMID: 29069482 Free PMC article. Review.
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H, Bertoli-Avella AM, Skrahina V, Anjum MN, Waheed N, Saeed A, Beetz C, Perez-Lopez J, Rocha ME, Alawbathani S, Pereira C, Hovakimyan M, Patric IRP, Paknia O, Ameziane N, Cozma C, Bauer P, Rolfs A. Cheema H, et al. Among authors: skrahina v. NPJ Genom Med. 2020 Oct 5;5:44. doi: 10.1038/s41525-020-00150-z. eCollection 2020. NPJ Genom Med. 2020. PMID: 33083013 Free PMC article.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Among authors: skrahina v. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
HAE patient self-sampling for biomarker establishment.
Förster TM, Magerl M, Maurer M, Zülbahar S, Zielke S, Inhaber N, Crocetta D, Rolfs A, Skrahina V. Förster TM, et al. Among authors: skrahina v. Orphanet J Rare Dis. 2021 Sep 28;16(1):399. doi: 10.1186/s13023-021-02021-x. Orphanet J Rare Dis. 2021. PMID: 34583739 Free PMC article.
Rapid Large-Scale COVID-19 Testing During Shortages.
Beetz C, Skrahina V, Förster TM, Gaber H, Paul JJ, Curado F, Rolfs A, Bauer P, Schäfer S, Weckesser V, Lieu V, Radefeldt M, Pöppel C, Krake S, Kandaswamy KK, Bruesehafer K, Vogel F. Beetz C, et al. Among authors: skrahina v. Diagnostics (Basel). 2020 Jul 8;10(7):464. doi: 10.3390/diagnostics10070464. Diagnostics (Basel). 2020. PMID: 32650631 Free PMC article.
Biphasic zinc compartmentalisation in a human fungal pathogen.
Crawford AC, Lehtovirta-Morley LE, Alamir O, Niemiec MJ, Alawfi B, Alsarraf M, Skrahina V, Costa ACBP, Anderson A, Yellagunda S, Ballou ER, Hube B, Urban CF, Wilson D. Crawford AC, et al. Among authors: skrahina v. PLoS Pathog. 2018 May 4;14(5):e1007013. doi: 10.1371/journal.ppat.1007013. eCollection 2018 May. PLoS Pathog. 2018. PMID: 29727465 Free PMC article.
Secondary findings in a large Pakistani cohort tested with whole genome sequencing.
Skrahin A, Cheema HA, Hussain M, Rana NN, Rehman KU, Kumar R, Oprea G, Ameziane N, Rolfs A, Skrahina V. Skrahin A, et al. Among authors: skrahina v. Life Sci Alliance. 2023 Jan 12;6(3):e202201673. doi: 10.26508/lsa.202201673. Print 2023 Mar. Life Sci Alliance. 2023. PMID: 36635046 Free PMC article.
The Rostock International Parkinson's Disease (ROPAD) Study: Protocol and Initial Findings.
Skrahina V, Gaber H, Vollstedt EJ, Förster TM, Usnich T, Curado F, Brüggemann N, Paul J, Bogdanovic X, Zülbahar S, Olmedillas M, Skobalj S, Ameziane N, Bauer P, Csoti I, Koleva-Alazeh N, Grittner U, Westenberger A, Kasten M, Beetz C, Klein C, Rolfs A; ROPAD Study Group. Skrahina V, et al. Mov Disord. 2021 Apr;36(4):1005-1010. doi: 10.1002/mds.28416. Epub 2020 Dec 14. Mov Disord. 2021. PMID: 33314351 Free PMC article.
21 results