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Ditta Zobor

Showing results (51-60 of 54) with videos related to

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Plos One|January 12, 2013
Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotypeIsabelle Perrault, Alejandro Estrada-Cuzcano, Irma Lopez, et al.
Nature Genetics|June 2, 2015
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsiaSusanne Kohl, Ditta Zobor, Wei-Chieh Chiang, et al.
European Journal of Human Genetics : EJHG|July 28, 2016
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patientsCrystel Bonnet, Zied Riahi, Sandra Chantot-Bastaraud, et al.
Human Mutation|March 25, 2022
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsiaMaria Solaki, Britta Baumann, Peggy Reuter, et al.
Pageof 6

Showing results (51-60 of 54) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 54 results.
Plos One|January 12, 2013
Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotypeIsabelle Perrault, Alejandro Estrada-Cuzcano, Irma Lopez, et al.
Nature Genetics|June 2, 2015
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsiaSusanne Kohl, Ditta Zobor, Wei-Chieh Chiang, et al.
European Journal of Human Genetics : EJHG|July 28, 2016
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patientsCrystel Bonnet, Zied Riahi, Sandra Chantot-Bastaraud, et al.
Human Mutation|March 25, 2022
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsiaMaria Solaki, Britta Baumann, Peggy Reuter, et al.
Pageof 6