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Cisarova

Showing results (31-40 of 35) with videos related to

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Communications Biology|January 30, 2021
A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosaKoji M Nishiguchi, Fuyuki Miya, Yuka Mori, et al.
Molecular Autism|October 27, 2021
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizuresBeryl Royer-Bertrand, Marine Jequier Gygax, Katarina Cisarova, et al.
Nature Communications|June 30, 2019
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathyKonstantinos Nikopoulos, Katarina Cisarova, Mathieu Quinodoz, et al.
American Journal of Human Genetics|September 3, 2016
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia DefectsKonstantinos Nikopoulos, Pietro Farinelli, Basilio Giangreco, et al.
American Journal of Human Genetics|March 13, 2025
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformationsCharlotte Guillouet, Valeria Agostini, Geneviève Baujat, et al.
Pageof 4

Showing results (31-40 of 35) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 35 results.
Communications Biology|January 30, 2021
A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosaKoji M Nishiguchi, Fuyuki Miya, Yuka Mori, et al.
Molecular Autism|October 27, 2021
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizuresBeryl Royer-Bertrand, Marine Jequier Gygax, Katarina Cisarova, et al.
Nature Communications|June 30, 2019
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathyKonstantinos Nikopoulos, Katarina Cisarova, Mathieu Quinodoz, et al.
American Journal of Human Genetics|September 3, 2016
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia DefectsKonstantinos Nikopoulos, Pietro Farinelli, Basilio Giangreco, et al.
American Journal of Human Genetics|March 13, 2025
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformationsCharlotte Guillouet, Valeria Agostini, Geneviève Baujat, et al.
Pageof 4