Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.


Ece S., Onay H., Atik T., Aykut A., Cerrah G., Ozalp Y., ...Daha Fazla

European journal of medical genetics, cilt.58, ss.689-94, 2015 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 58
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1016/j.ejmg.2015.10.011
  • Dergi Adı: European journal of medical genetics
  • Sayfa Sayıları: ss.689-94