BMC Medical Genetics View Homepage


Ontology type: schema:Periodical      Open Access: True


Journal Info

START YEAR

2000

PUBLISHER

BioMed Central

LANGUAGE

en

HOMEPAGE

http://bmcmedgenet.biomedcentral.com/

Recent publications latest 20 shown

  • 2019-12 HIF-1 transcription activity: HIF1A driven response in normoxia and in hypoxia
  • 2019-12 A case report of recessive restrictive cardiomyopathy caused by a novel mutation in cardiac troponin I (TNNI3).
  • 2019-12 Meta-analysis of associations of vascular endothelial growth factor protein levels and -634G/C polymorphism with systemic lupus erythematosus susceptibility
  • 2019-12 A functional variant alters binding of activating protein 1 regulating expression of FGF7 gene associated with chronic obstructive pulmonary disease
  • 2019-12 The role of MMP-12 gene polymorphism − 82 A-to-G (rs2276109) in immunopathology of COPD in polish patients: a case control study
  • 2019-12 A new genetic variant of hereditary apolipoprotein A-I amyloidosis: a case-report followed by discussion of diagnostic challenges and therapeutic options
  • 2019-12 Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report
  • 2019-12 Characterization of APOBEC3 variation in a population of HIV-1 infected individuals in northern South Africa
  • 2019-12 Correlation between Interleukin-17 gene polymorphism and osteoarthritis susceptibility in Han Chinese population
  • 2019-12 A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report
  • 2019-12 A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism
  • 2019-12 A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family
  • 2019-12 TNFSF15 promoter polymorphisms increase the susceptibility to small cell lung cancer: a case-control study
  • 2019-12 Exome genotyping and linkage analysis identifies two novel linked regions and replicates two others for myopia in Ashkenazi Jewish families
  • 2019-12 Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease
  • 2019-12 Association study between KIR polymorphisms and rheumatoid arthritis disease: an updated meta-analysis
  • 2019-12 ATM rs189037 (G > A) polymorphism increased the risk of cancer: an updated meta-analysis
  • 2019-12 Polymorphisms in IL36G gene are associated with plaque psoriasis
  • 2019-12 Evidence for long noncoding RNA GAS5 up-regulationin patients with Klinefelter syndrome
  • 2019-12 A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract
  • JSON-LD is the canonical representation for SciGraph data.

    TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

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