BMC Medical Genetics

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BioMed Central
 
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  • 2020 | Journal Article | 
    ​ ​Genetic variants in FBLIM1 gene do not contribute to SAPHO syndrome and chronic recurrent multifocal osteomyelitis in typical patient groups​
    Assmann, G.; Köhm, M.; Schuster, V.; Behrens, F.; Mössner, R. ; Magnolo, N. & Oji, V. et al.​ (2020) 
    BMC Medical Genetics, 21(1).​ DOI: https://doi.org/10.1186/s12881-020-01037-7 
    ​Details  DOI 
  • 2018 | Journal Article | 
    ​ ​The estrogen receptor 1 gene affects bone mineral density and osteoporosis treatment efficiency in Slovak postmenopausal women​
    Mondockova, V.; Adamkovicova, M.; Lukacova, M.; Grosskopf, B.; Babosova, R.; Galbavy, D. & Martiniakova, M. et al.​ (2018) 
    BMC Medical Genetics, 19(1) art. 174​.​ DOI: https://doi.org/10.1186/s12881-018-0684-8 
    ​Details  DOI 
  • 2016 | Journal Article | 
    ​ ​Variants of PLCXD3 are not associated with variant or sporadic Creutzfeldt-Jakob disease in a large international study​
    Balendra, R.; Uphill, J.; Collinson, C.; Druyeh, R.; Adamson, G.; Hummerich, H. & Zerr, I. et al.​ (2016) 
    BMC Medical Genetics, 17 art. 28​.​ DOI: https://doi.org/10.1186/s12881-016-0278-2 
    ​Details  DOI  PMID  PMC  WoS 
  • 2012 | Journal Article | 
    ​ ​Association of a bitter taste receptor mutation with Balkan Endemic Nephropathy (BEN)​
    Wooding, S. P.; Atanasova, S.; Gunn, H. C.; Staneva, R.; Dimova, I. & Toncheva, D.​ (2012) 
    BMC Medical Genetics, 13 art. 96​.​ DOI: https://doi.org/10.1186/1471-2350-13-96 
    ​Details  DOI  PMID  PMC  WoS 
  • 2011 | Journal Article | Research Paper | 
    ​ ​Characterization of two common 5 ' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients​
    Thoms, S. ; Gronborg, S.; Rabenau, J.; Ohlenbusch, A. ; Rosewich, H.   & Gärtner, J. ​ (2011) 
    BMC Medical Genetics, 12 art. 109​.​ DOI: https://doi.org/10.1186/1471-2350-12-109 
    ​Details  DOI  PMID  PMC  WoS 
  • 2010 | Journal Article | 
    ​ ​Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder​
    Delorme, R.; Moreno-De-Luca, D.; Gennetier, A.; Maier, W.; Chaste, P.; Moessner, R. & Grabe, H. J. et al.​ (2010) 
    BMC Medical Genetics, 11 art. 100​.​ DOI: https://doi.org/10.1186/1471-2350-11-100 
    ​Details  DOI  PMID  PMC  WoS 
  • 2010 | Journal Article | 
    ​ ​Pitfall in mutational testing and reporting of common KIT and PDGFRA mutations in gastrointestinal stromal tumors​
    Merkelbach-Bruse, S.; Dietmaier, W.; Fuezesi, L.; Gaumann, A.; Haller, F.; Kitz, J. & Krohn, A. et al.​ (2010) 
    BMC Medical Genetics, 11 art. 106​.​ DOI: https://doi.org/10.1186/1471-2350-11-106 
    ​Details  DOI  PMID  PMC  WoS 
  • 2009 | Journal Article | 
    ​ ​Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients​
    Palumbo, V.; Segat, L.; Padovan, L.; Amoroso, A.; Trimarco, B.; Izzo, R. & Lembo, G. et al.​ (2009) 
    BMC Medical Genetics, 10 art. 140​.​ DOI: https://doi.org/10.1186/1471-2350-10-140 
    ​Details  DOI  PMID  PMC  WoS 
  • 2008 | Journal Article | 
    ​ ​Genomic NGFB variation and multiple sclerosis in a case control study​
    Akkad, D. A.; Kruse, N.; Arning, L.; Gold, R. & Epplen, J. T.​ (2008) 
    BMC Medical Genetics, 9 art. 107​.​ DOI: https://doi.org/10.1186/1471-2350-9-107 
    ​Details  DOI  PMID  PMC  WoS 

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