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.

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

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

• Publication Type: Article / Article
• Volume: 58
• Publication Date: 2015
• Doi Number: 10.1016/j.ejmg.2015.10.011
• Journal Name: European journal of medical genetics
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Page Numbers: pp.689-94
• Kütahya Health Sciences University Affiliated: No