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Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC.
Erzurumluoglu AM, Alsaadi MM, Rodriguez S, Alotaibi TS, Guthrie PA, Lewis S, Ginwalla A, Gaunt TR, Alharbi KK, Alsaif FM, Alsaadi BM, Day IN. Erzurumluoglu AM, et al. Among authors: rodriguez s. PLoS One. 2015 Mar 23;10(3):e0121351. doi: 10.1371/journal.pone.0121351. eCollection 2015. PLoS One. 2015. PMID: 25799584 Free PMC article.
Y Chromosome, Mitochondrial DNA and Childhood Behavioural Traits.
Howe LJ, Erzurumluoglu AM, Davey Smith G, Rodriguez S, Stergiakouli E. Howe LJ, et al. Among authors: rodriguez s. Sci Rep. 2017 Sep 14;7(1):11655. doi: 10.1038/s41598-017-10871-4. Sci Rep. 2017. PMID: 28912458 Free PMC article.
Associations of Y chromosomal haplogroups with cardiometabolic risk factors and subclinical vascular measures in males during childhood and adolescence.
O'Keeffe LM, Howe LD, Fraser A, Hughes AD, Wade KH, Anderson EL, Lawlor DA, Erzurumluoglu AM, Davey-Smith G, Rodriguez S, Stergiakouli E. O'Keeffe LM, et al. Among authors: rodriguez s. Atherosclerosis. 2018 Jul;274:94-103. doi: 10.1016/j.atherosclerosis.2018.04.027. Epub 2018 Apr 25. Atherosclerosis. 2018. PMID: 29753233 Free PMC article.
2,222 results