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The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.
Hunter M, Heyer E, Austerlitz F, Angelicheva D, Nedkova V, Briones P, Gata A, de Pablo R, László A, Bosshard N, Gitzelmann R, Tordai A, Kalmar L, Szalai C, Balogh I, Lupu C, Corches A, Popa G, Perez-Lezaun A, Kalaydjieva LV. Hunter M, et al. Among authors: laszlo a. Pediatr Res. 2002 May;51(5):602-6. doi: 10.1203/00006450-200205000-00010. Pediatr Res. 2002. PMID: 11978884
A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evolutionary consideration.
Tanaka K, Gregersen N, Ribes A, Kim J, Kølvraa S, Winter V, Eiberg H, Martinez G, Deufel T, Leifert B, Santer R, François B, Pronicka E, László A, Kmoch S, Kremensky I, Kalaydjicva L, Ozalp I, Ito M. Tanaka K, et al. Among authors: laszlo a. Pediatr Res. 1997 Feb;41(2):201-9. doi: 10.1203/00006450-199702000-00008. Pediatr Res. 1997. PMID: 9029639
Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.
Vyletal P, Sokolová J, Cooper DN, Kraus JP, Krawczak M, Pepe G, Rickards O, Koch HG, Linnebank M, Kluijtmans LA, Blom HJ, Boers GH, Gaustadnes M, Skovby F, Wilcken B, Wilcken DE, Andria G, Sebastio G, Naughten ER, Yap S, Ohura T, Pronicka E, Laszlo A, Kozich V. Vyletal P, et al. Among authors: laszlo a. Hum Mutat. 2007 Mar;28(3):255-64. doi: 10.1002/humu.20430. Hum Mutat. 2007. PMID: 17072863 Free PMC article.
Enzymatic synthesis and nanopore sequencing of 12-letter supernumerary DNA.
Kawabe H, Thomas CA, Hoshika S, Kim MJ, Kim MS, Miessner L, Kaplan N, Craig JM, Gundlach JH, Laszlo AH, Benner SA, Marchand JA. Kawabe H, et al. Among authors: laszlo ah. Nat Commun. 2023 Oct 26;14(1):6820. doi: 10.1038/s41467-023-42406-z. Nat Commun. 2023. PMID: 37884513 Free PMC article.
[Unexplained anemia in the elderly, what advances?].
Walzer S, Laszlo A, Erard É, Levrat E, Pham Huu Thien HP. Walzer S, et al. Among authors: laszlo a. Rev Med Suisse. 2023 Aug 23;19(838):1517-1521. doi: 10.53738/REVMED.2023.19.838.1517. Rev Med Suisse. 2023. PMID: 37610197 French.
Observing inhibition of the SARS-CoV-2 helicase at single-nucleotide resolution.
Marx SK, Mickolajczyk KJ, Craig JM, Thomas CA, Pfeffer AM, Abell SJ, Carrasco JD, Franzi MC, Huang JR, Kim HC, Brinkerhoff H, Kapoor TM, Gundlach JH, Laszlo AH. Marx SK, et al. Among authors: laszlo ah. Nucleic Acids Res. 2023 Sep 22;51(17):9266-9278. doi: 10.1093/nar/gkad660. Nucleic Acids Res. 2023. PMID: 37560916 Free PMC article.
367 results