Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: Syndrome and BBS7[original query] |
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BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. Human mutation 2009 Jul 30 (7): E737-46. Bin Jenea, Madhavan Jagadeesan, Ferrini Walter, Mok Calvin A, Billingsley Gail, Héon Eli |
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 |
Identification of Restless Legs Syndrome Genes by Mutational Load Analysis. Annals of neurology 2019 Dec . Tilch Erik, Schormair Barbara, Zhao Chen, Salminen Aaro V, Antic Nikolic Ana, Holzknecht Evi, Högl Birgit, Poewe Werner, Bachmann Cornelius G, Paulus Walter, Trenkwalder Claudia, Oertel Wolfgang H, Hornyak Magdolna, Fietze Ingo, Berger Klaus, Lichtner Peter, Gieger Christian, Peters Annette, Müller-Myhsok Bertram, Hoischen Alexander, Winkelmann Juliane, Oexle Konr |
Clinical and exome sequencing findings in seven children with Bardet-Biedl syndrome from Turkey. Annals of human genetics 2020 7 85 (1): 27-36. Gumus Evren, Tuncez Ebru, Oz Ozlem, Saka Guvenc Mer |
A Genotype-Phenotype Analysis of the Bardet-Biedl Syndrome in Puerto Rico. Clinical ophthalmology (Auckland, N.Z.) 2021 15 3757-3764. Guardiola Gabriel A, Ramos Fabiola, Izquierdo Natalio J, Oliver Armando |
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 |
Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients. Orphanet journal of rare diseases 2024 4 19 (1): 149. Shiyang Gao, Qianwen Zhang, Yu Ding, Libo Wang, Zhiying Li, Feihan Hu, Ru-En Yao, Tingting Yu, Guoying Chang, Xiumin Wa |
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