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Posts by BMJblogs :

  • Comparison of the clinical scoring systems in Silver–Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing, Posted on June 29, 2013 by BMJ in Uncategorized
  • Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis, Posted on June 29, 2013 by BMJ in Uncategorized
  • West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation, Posted on June 29, 2013 by BMJ in Uncategorized
  • Associations of common variants in HFE and TMPRSS6 with iron parameters are independent of serum hepcidin in a general population: a replication study, Posted on June 22, 2013 by BMJ in Uncategorized
  • Digenic inheritance in medical genetics, Posted on June 19, 2013 by BMJ in Uncategorized
  • Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy, Posted on June 17, 2013June 17, 2013 by BMJ in Uncategorized
  • Meta-Analysis of Genome-Wide Studies Identifies MEF2C SNPs Associated with Bone Mineral Density at Forearm, Posted on June 11, 2013 by BMJ in Uncategorized
  • Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism, Posted on June 7, 2013 by BMJ in Uncategorized
  • A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia, Posted on June 7, 2013 by BMJ in Uncategorized
  • Identification of well-differentiated gene expressions between Han Chinese and Japanese using genome-wide microarray data analysis, Posted on June 4, 2013 by BMJ in Uncategorized
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