Publications:

Identification of A Novel Compound Heterozygous Mutation in BBS12 in An Iranian Family with Bardet-Biedl Syndrome Using Targeted Next Generation Sequencing.

Cell Journal

Nikkhah, Emad E; Safaralizadeh, Reza R; Mohammadiasl, Javad J; Tahmasebi Birgani, Maryam M; Hosseinpour Feizi, Mohammad Ali MA; Golchin, Neda N

Publication Date: 2018-07

Variant appearance in text: BBS7: 2103C>A

PubMed Link: 29633607

Variant Present in the following documents:

• Main text
• Cell-J-20-284.pdf

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A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies.

Molecular Syndromology

Pawlik, B B; Mir, A A; Iqbal, H H; Li, Y Y; Nürnberg, G G; Becker, C C; Qamar, R R; Nürnberg, P P; Wollnik, B B

Publication Date: 2010-02

Variant appearance in text: BBS7: 2103C>A

PubMed Link: 20648243

Variant Present in the following documents:

• Main text

View BVdb publication page