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Page 1
Identification of human D lactate dehydrogenase deficiency.
Monroe GR, van Eerde AM, Tessadori F, Duran KJ, Savelberg SMC, van Alfen JC, Terhal PA, van der Crabben SN, Lichtenbelt KD, Fuchs SA, Gerrits J, van Roosmalen MJ, van Gassen KL, van Aalderen M, Koot BG, Oostendorp M, Duran M, Visser G, de Koning TJ, Calì F, Bosco P, Geleijns K, de Sain-van der Velden MGM, Knoers NV, Bakkers J, Verhoeven-Duif NM, van Haaften G, Jans JJ. Monroe GR, et al. Among authors: cali f. Nat Commun. 2019 Apr 1;10(1):1477. doi: 10.1038/s41467-019-09458-6. Nat Commun. 2019. PMID: 30931947 Free PMC article.
Genetic diversity within the R408W phenylketonuria mutation lineages in Europe.
Tighe O, Dunican D, O'Neill C, Bertorelle G, Beattie D, Graham C, Zschocke J, Cali F, Romano V, Hrabincova E, Kozak L, Nechyporenko M, Livshits L, Guldberg P, Jurkowska M, Zekanowski C, Perez B, Desviat LR, Ugarte M, Kucinskas V, Knappskog P, Treacy E, Naughten E, Tyfield L, Byck S, Scriver CR, Mayne PD, Croke DT. Tighe O, et al. Among authors: cali f. Hum Mutat. 2003 Apr;21(4):387-93. doi: 10.1002/humu.10195. Hum Mutat. 2003. PMID: 12655548
Phylogeographic analysis of haplogroup E3b (E-M215) y chromosomes reveals multiple migratory events within and out of Africa.
Cruciani F, La Fratta R, Santolamazza P, Sellitto D, Pascone R, Moral P, Watson E, Guida V, Colomb EB, Zaharova B, Lavinha J, Vona G, Aman R, Cali F, Akar N, Richards M, Torroni A, Novelletto A, Scozzari R. Cruciani F, et al. Among authors: cali f. Am J Hum Genet. 2004 May;74(5):1014-22. doi: 10.1086/386294. Epub 2004 Mar 24. Am J Hum Genet. 2004. PMID: 15042509 Free PMC article.
Molecular basis of mild hyperphenylalaninaemia in Turkey.
Yilmaz E, Cali F, Roman V, Ozalp I, Coşkun T, Tokatli A, Kalkanoğlu HS, Ozgüç M. Yilmaz E, et al. Among authors: cali f. J Inherit Metab Dis. 2000 Jul;23(5):523-5. doi: 10.1023/a:1005628717813. J Inherit Metab Dis. 2000. PMID: 10947211 No abstract available.
105 results