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  • Childhood-onset Leigh syndrome transforming into an episodic weakness phenotype with axonal neuropathy caused by MT-ATP6 mutations
  • Genetic 3′ UTR variation is associated with human pigmentation characteristics and sensitivity to sunlight
  • Congenital skull fracture as a presenting sign of Menkes disease: A case of perinatal diagnosis and early treatment
  • Whole-genome analysis reveals unexpected dynamics of mutant subclone development in a patient with JAK2-V617F-positive chronic myeloid leukemia
  • Efficacy of FOLFOXIRI plus bevacizumab in liver-limited metastatic colorectal cancer: a pooled analysis of clinical studies by Gruppo Oncologico del Nord …
  • Genetic diversity of 71 Y-chromosomal biallelic markers in the Han population living in Southern China
  • The RAD51C exonic splice-site mutations c. 404G> C and c. 404G> T are associated with familial breast and ovarian cancer
  • Mutation detection for biochemical genetics in the genomic era
  • Vitamin B12 deficiency in inflammatory bowel disease: a prospective observational pilot study
  • Validation analysis of known hypermethylated genes in cervical carcinoma at high-risk population
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