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4 in total

1. Bardet-Biedl syndrome.

Authors: Elizabeth Forsythe; Philip L Beales
Journal: Eur J Hum Genet Date: 2012-06-20 Impact factor: 4.246

Review 2. Bardet-Biedl Syndrome.

Authors: Evgeny N Suspitsin; Evgeny N Imyanitov
Journal: Mol Syndromol Date: 2016-04-15

3. Identification of compound heterozygous mutations in the BBS7 gene in a Korean family with Bardet-Biedl syndrome.

Authors: Seok Joon Shin; Myungshin Kim; Hyojin Chae; Ahlm Kwon; Yonggoo Kim; Sung Jun Kim; Hye Eun Yoon; Dong Wook Jekarl; Seungok Lee
Journal: Ann Lab Med Date: 2014-12-08 Impact factor: 3.464

4. Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye.

Authors: Katie Weihbrecht; Wesley A Goar; Thomas Pak; Janelle E Garrison; Adam P DeLuca; Edwin M Stone; Todd E Scheetz; Val C Sheffield
Journal: Med Res Arch Date: 2017-09-18

4 in total

2 in total

1. Novel biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spectrum of disease-causing genetic alterations.

Authors: Verónica Seidel; Cristina Andrés-Zayas; Julia Suárez-González; Elvira Izquierdo; Ismael Buño
Journal: BMC Med Genomics Date: 2021-03-26 Impact factor: 3.063

2. Novel homozygous nonsense mutation associated with Bardet-Biedl syndrome in fetuses with congenital renal malformation.

Authors: Meiying Cai; Min Lin; Na Lin; Liangpu Xu; Hailong Huang
Journal: Medicine (Baltimore) Date: 2022-08-12 Impact factor: 1.817

2 in total