Author Janssens, Sandra

1 to 2 of 2 Items
  • 2016 | Journal Article | Research Paper
    ​ ​DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System​
    Sommen, M.; Schrauwen, I.; Vandeweyer, G.; Boeckx, N.; Corneveaux, J. J.; van den Ende, J. & Boudewyns, A. et al.​ (2016) 
    Human Mutation, 37(8) pp. 812​-819​.​ DOI: https://doi.org/10.1002/humu.22999 
    ​Details  DOI  PMID  PMC  WoS 
  • 2018 | Journal Article | 
    ​ ​Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence​
    Bonnin, E.; Cabochette, P.; Filosa, A.; Jühlen, R.; Komatsuzaki, S.; Hezwani, M. & Dickmanns, A. et al.​ (2018) 
    PLOS Genetics, 14(12) art. e1007845​.​ DOI: https://doi.org/10.1371/journal.pgen.1007845 
    ​Details  DOI  PMID  PMC 

Researcher

Göttingen All

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