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Year Number of Results
1982 1
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1985 1
1986 1
1987 1
1988 1
1989 1
1990 1
1991 3
1994 1
1995 2
1996 1
1997 1
1998 2
1999 2
2000 1
2001 1
2005 1
2006 1
2008 2
2009 1
2010 1
2012 1
2014 1
2015 1
2016 1
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45 results

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Page 1
Homozygous variant in TKFC abolishing triokinase activities is associated with isolated immunodeficiency.
Tremblay-Laganière C, Michaud C, Abourjaili-Bilodeau R, Cabezas A, Canales J, Costas MJ, Ribeiro JM, Leclerc-Blain J, Touzot F, Haddad E, Teira P, Duval M, Onoufriadis A, Meunier B, Cameselle JC, Campeau PM. Tremblay-Laganière C, et al. Among authors: costas mj. J Med Genet. 2024 Aug 29;61(9):886-890. doi: 10.1136/jmg-2024-109853. J Med Genet. 2024. PMID: 38697782
Bis-(5'-guanosyl) tetraphosphatase in rat tissues.
Cameselle JC, Costas MJ, Sillero MA, Sillero A. Cameselle JC, et al. Among authors: costas mj. Biochem J. 1982 Feb 1;201(2):405-10. doi: 10.1042/bj2010405. Biochem J. 1982. PMID: 6282267 Free PMC article.
Autosomal recessive hypotrichosis with loose anagen hairs associated with TKFC mutations.
Onoufriadis A, Cabezas A, Ng JCF, Canales J, Costas MJ, Ribeiro JM, Rodrigues JR, McAleer MA, Castelo-Soccio L, Simpson MA, Fraternali F, Irvine AD, Cameselle JC, McGrath JA. Onoufriadis A, et al. Among authors: costas mj. Br J Dermatol. 2021 May;184(5):935-943. doi: 10.1111/bjd.19481. Epub 2020 Nov 2. Br J Dermatol. 2021. PMID: 32790068
Enzyme Characterization of Pro-virulent SntA, a Cell Wall-Anchored Protein of Streptococcus suis, With Phosphodiesterase Activity on cyclic-di-AMP at a Level Suited to Limit the Innate Immune System.
Cabezas A, Costas MJ, Canales J, Pinto RM, Rodrigues JR, Ribeiro JM, Cameselle JC. Cabezas A, et al. Among authors: costas mj. Front Microbiol. 2022 Mar 22;13:843068. doi: 10.3389/fmicb.2022.843068. eCollection 2022. Front Microbiol. 2022. PMID: 35391727 Free PMC article.
Genomic Distribution of Pro-Virulent cpdB-like Genes in Eubacteria and Comparison of the Enzyme Specificity of CpdB-like Proteins from Salmonella enterica, Escherichia coli and Streptococcus suis.
Ribeiro JM, Canales J, Costas MJ, Cabezas A, Pinto RM, García-Díaz M, Martín-Cordero P, Cameselle JC. Ribeiro JM, et al. Among authors: costas mj. Int J Mol Sci. 2023 Feb 19;24(4):4150. doi: 10.3390/ijms24044150. Int J Mol Sci. 2023. PMID: 36835561 Free PMC article.
45 results