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Genetic characterization of the Albanian Gaucher disease patient population.
Cullufi P, Tabaku M, Velmishi V, Gjikopulli A, Tomori S, Dervishi E, Tako A, Leubauer A, Westenberger A, Cozma C, Beetz C, Bauer P, Wirth S, Rolfs A. Cullufi P, et al. Among authors: rolfs a. JIMD Rep. 2020 Nov 17;57(1):52-57. doi: 10.1002/jmd2.12167. eCollection 2021 Jan. JIMD Rep. 2020. PMID: 33473340 Free PMC article.
Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson's disease: mutational spectrum and clinical features.
Lim JL, Lohmann K, Tan AH, Tay YW, Ibrahim KA, Abdul Aziz Z, Mawardi AS, Puvanarajah SD, Lim TT, Looi I, Ooi JCE, Chia YK, Muthusamy KA, Bauer P, Rolfs A, Klein C, Ahmad-Annuar A, Lim SY. Lim JL, et al. Among authors: rolfs a. J Neural Transm (Vienna). 2022 Jan;129(1):37-48. doi: 10.1007/s00702-021-02421-0. Epub 2021 Nov 15. J Neural Transm (Vienna). 2022. PMID: 34779914
Unmet needs in human genomic variant interpretation.
Bauer P, Karges E, Oprea G, Rolfs A. Bauer P, et al. Among authors: rolfs a. Genet Med. 2018 Mar;20(3):376-377. doi: 10.1038/gim.2017.187. Epub 2017 Oct 26. Genet Med. 2018. PMID: 29261185 Free article. No abstract available.
429 results