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., ...More

European journal of medical genetics, vol.58, pp.689-94, 2015 (Journal Indexed in SCI Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 58
  • Publication Date: 2015
  • Doi Number: 10.1016/j.ejmg.2015.10.011
  • Title of Journal : European journal of medical genetics
  • Page Numbers: pp.689-94