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Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome.
Cozma C, Hovakimyan M, Iurașcu MI, Makhseed N, Selim LA, Alhashem AM, Ben-Omran T, Mahmoud IG, Al Menabawy NM, Al-Mureikhi M, Martin M, Demuth L, Yüksel Z, Beetz C, Bauer P, Rolfs A. Cozma C, et al. Among authors: rolfs a. Orphanet J Rare Dis. 2019 Aug 27;14(1):209. doi: 10.1186/s13023-019-1183-5. Orphanet J Rare Dis. 2019. PMID: 31455396 Free PMC article.
Olfactory deficits in Niemann-Pick type C1 (NPC1) disease.
Hovakimyan M, Meyer A, Lukas J, Luo J, Gudziol V, Hummel T, Rolfs A, Wree A, Witt M. Hovakimyan M, et al. Among authors: rolfs a. PLoS One. 2013 Dec 31;8(12):e82216. doi: 10.1371/journal.pone.0082216. eCollection 2013. PLoS One. 2013. PMID: 24391715 Free PMC article.
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Trujillano D, Bertoli-Avella AM, Kumar Kandaswamy K, Weiss ME, Köster J, Marais A, Paknia O, Schröder R, Garcia-Aznar JM, Werber M, Brandau O, Calvo Del Castillo M, Baldi C, Wessel K, Kishore S, Nahavandi N, Eyaid W, Al Rifai MT, Al-Rumayyan A, Al-Twaijri W, Alothaim A, Alhashem A, Al-Sannaa N, Al-Balwi M, Alfadhel M, Rolfs A, Abou Jamra R. Trujillano D, et al. Among authors: rolfs a. Eur J Hum Genet. 2017 Feb;25(2):176-182. doi: 10.1038/ejhg.2016.146. Epub 2016 Nov 16. Eur J Hum Genet. 2017. PMID: 27848944 Free PMC article.
419 results