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Year Number of Results
2010 2
2011 1
2013 1
2014 5
2015 5
2016 2
2017 2
2018 1
2019 4
2020 3
2024 0

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22 results

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Page 1
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: hovakimyan m. 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.
Glucosylsphingosine is a reliable response biomarker in Gaucher disease.
Arkadir D, Dinur T, Revel-Vilk S, Becker Cohen M, Cozma C, Hovakimyan M, Eichler S, Rolfs A, Zimran A. Arkadir D, et al. Among authors: hovakimyan m. Am J Hematol. 2018 Jun;93(6):E140-E142. doi: 10.1002/ajh.25074. Epub 2018 Mar 15. Am J Hematol. 2018. PMID: 29473199 Free article. No abstract available.
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. PLoS One. 2013 Dec 31;8(12):e82216. doi: 10.1371/journal.pone.0082216. eCollection 2013. PLoS One. 2013. PMID: 24391715 Free PMC article.
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: hovakimyan m. 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.
22 results