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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 2, 2023. (Total: 223599Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Bardet-Biedl Syndrome and BBS2[original query]
Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians.
Diabetes 2006 Oct 55 (10): 2876-82.
Benzinou Michael, Walley Andrew, Lobbens Stephan, Charles Marie-Aline, Jouret Béatrice, Fumeron Frédéric, Balkau Beverley, Meyre David, Froguel Philip
Carrier frequency of two BBS2 mutations in the Ashkenazi population.
Clinical genetics 2014 Jun 85 (6): 578-82.
Fedick A, Jalas C, Abeliovich D, Krakinovsky Y, Ekstein J, Ekstein A, Treff N
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
American journal of human genetics 2016 Aug 99 (2): 318-36.
Lindstrand Anna, Frangakis Stephan, Carvalho Claudia M B, Richardson Ellen B, McFadden Kelsey A, Willer Jason R, Pehlivan Davut, Liu Pengfei, Pediaditakis Igor L, Sabo Aniko, Lewis Richard Alan, Banin Eyal, Lupski James R, Davis Erica E, Katsanis Nichol
Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.
American journal of medical genetics. Part A 2023 6 .
Sheraz Khan, Ina Ofelia Foc?a, Magdalena Budi?teanu, Cristina Stoica, Florina Nedelea, Lauren?iu Bohîl?ea, Lavinia Caba, L?cr?mioara Butnariu, Monica Pânzaru, Cristina Rusu, Claudia Jurc?, Adela Chirita-Emandi, Claudia B?nescu, Wasim Abbas, Azita Sadeghpour, Shahid Mahmood Baig, Mihaela B?lgr?dean, Erica E Dav
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