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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.
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.
Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots.
Auer-Grumbach M, Rettl R, Ablasser K, Agis H, Beetz C, Duca F, Gattermeier M, Glaser F, Hacker M, Kain R, Kaufmann B, Kovacs GG, Lampl C, Ljevakovic N, Nagele J, Pölzl G, Quasthoff S, Raimann B, Rauschka H, Reiter C, Skrahina V, Schuhfried O, Sunder-Plassmann R, Verheyen ND, Wanschitz J, Weber T, Windhager R, Wurm R, Zimprich F, Löscher WN, Bonderman D. Auer-Grumbach M, et al. Among authors: skrahina v. J Clin Med. 2020 Jul 14;9(7):2234. doi: 10.3390/jcm9072234. J Clin Med. 2020. PMID: 32674397 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.
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.
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.
LRRK2 Loss-of-Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact.
Beetz C, Westenberger A, Al-Ali R, Ameziane N, Alhashmi N, Boustany RM, Al Mutairi F, Alfadhel M, Al-Hassnan Z, AlSayed M, Kandaswamy KK, Paknia O, Skrahina V, Rolfs A, Bauer P. Beetz C, et al. Among authors: skrahina v. Mov Disord. 2021 Apr;36(4):1029-1031. doi: 10.1002/mds.28452. Epub 2021 Jan 12. Mov Disord. 2021. PMID: 33433017 Free PMC article. No abstract available.
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.
27 results