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UnknownA novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report.
Not available
S-EPMC6357400 | biostudies-literature
UnknownNovel mutation in the MPZ gene causes early-onset but slow-progressive Charcot-Marie-Tooth disease in a Russian family: a case report.
Not available
S-EPMC9806381 | biostudies-literature
UnknownA case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene.
Not available
S-EPMC10621312 | biostudies-literature
UnknownA novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report.
Not available
S-EPMC6109285 | biostudies-literature
UnknownLiddle syndrome due to a novel mutation in the γ subunit of the epithelial sodium channel (ENaC) in family from Russia: a case report.
Not available
S-EPMC6815463 | biostudies-literature
UnknownImpact of High Salt Diet on Cerebral Vascular Function and Stroke in Tff3-/-/C57BL/6N Knockout and WT (C57BL/6N) Control Mice.
Not available
S-EPMC6829871 | biostudies-literature
UnknownNeuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers.
Not available
S-EPMC7336735 | biostudies-literature
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