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Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.
Mercimek-Mahmutoglu S, Ndika J, Kanhai W, de Villemeur TB, Cheillan D, Christensen E, Dorison N, Hannig V, Hendriks Y, Hofstede FC, Lion-Francois L, Lund AM, Mundy H, Pitelet G, Raspall-Chaure M, Scott-Schwoerer JA, Szakszon K, Valayannopoulos V, Williams M, Salomons GS. Mercimek-Mahmutoglu S, et al. Among authors: ndika j. Hum Mutat. 2014 Apr;35(4):462-9. doi: 10.1002/humu.22511. Epub 2014 Mar 6. Hum Mutat. 2014. PMID: 24415674
Environmental dependence of genetic constraint.
de Vos MG, Poelwijk FJ, Battich N, Ndika JD, Tans SJ. de Vos MG, et al. Among authors: ndika jd. PLoS Genet. 2013 Jun;9(6):e1003580. doi: 10.1371/journal.pgen.1003580. Epub 2013 Jun 27. PLoS Genet. 2013. PMID: 23825963 Free PMC article.
Beyond basic characterization and omics: Immunomodulatory roles of platelet-derived extracellular vesicles unveiled by functional testing.
Palviainen M, Puutio J, Østergaard RH, Eble JA, Maaninka K, Butt U, Ndika J, Kari OK, Kamali-Moghaddam M, Kjaer-Sorensen K, Oxvig C, Aransay AM, Falcon-Perez JM, Federico A, Greco D, Laitinen S, Hayashi Y, Siljander PR. Palviainen M, et al. Among authors: ndika j. J Extracell Vesicles. 2024 Oct;13(10):e12513. doi: 10.1002/jev2.12513. J Extracell Vesicles. 2024. PMID: 39330919 Free PMC article.
30 results