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Human mutation

Showing results (421-430 of 6,541) with videos related to

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Human Mutation|January 15, 2004
Genetic characterization and structural analysis of VHL Spanish families to define genotype-phenotype correlationsSergio Ruiz-Llorente, Jerónimo Bravo, Arancha Cebrián, et al.
Human Mutation|January 15, 2004
Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variantsNagla M A Gasmelseed, Martin Schmidt, Mubarak M A Magzoub, et al.
Human Mutation|July 2, 2019
Structural variation at the CYP2C locus: Characterization of deletion and duplication allelesMariana R Botton, Xingwu Lu, Geping Zhao, et al.
Human Mutation|June 19, 2019
Evaluating the predictions of the protein stability change upon single amino acid substitutions for the FXN CAGI5 challengeCastrense Savojardo, Maria Petrosino, Giulia Babbi, et al.
Human Mutation|June 19, 2019
Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt diseaseMubeen Khan, Stéphanie S Cornelis, Muhammad Imran Khan, et al.
Human Mutation|October 15, 2019
Disease-associated polymorphisms within the conserved ECR1 enhancer differentially regulate the tissue-specific activity of the cannabinoid-1 receptor gene promoter; implications for cannabinoid pharmacogeneticsElizabeth A Hay, Philip Cowie, Andrew R McEwan, et al.
Human Mutation|July 10, 2019
LOVD-DASH: A comprehensive LOVD database coupled with diagnosis and an at-risk assessment system for hemoglobinopathiesLi Zhang, Qianqian Zhang, Yaohua Tang, et al.
Human Mutation|July 12, 2019
Compound heterozygous ZP1 mutations cause empty follicle syndrome in infertile sistersLing Sun, Xiang Fang, Zhiheng Chen, et al.
Human Mutation|July 12, 2019
Novel SCA19/22-associated KCND3 mutations disrupt human K<sub>V</sub> 4.3 protein biosynthesis and channel gatingCheng-Tsung Hsiao, Ssu-Ju Fu, Yo-Tsen Liu, et al.
Human Mutation|July 4, 2019
What went wrong with variant effect predictor performance for the PCM1 challengeMaximilian Miller, Yanran Wang, Yana Bromberg
Pageof 655

Showing results (421-430 of 6,541) with videos related to

Sort By:
Pageof 655
Human Mutation|January 15, 2004
Genetic characterization and structural analysis of VHL Spanish families to define genotype-phenotype correlationsSergio Ruiz-Llorente, Jerónimo Bravo, Arancha Cebrián, et al.
Human Mutation|January 15, 2004
Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variantsNagla M A Gasmelseed, Martin Schmidt, Mubarak M A Magzoub, et al.
Human Mutation|July 2, 2019
Structural variation at the CYP2C locus: Characterization of deletion and duplication allelesMariana R Botton, Xingwu Lu, Geping Zhao, et al.
Human Mutation|June 19, 2019
Evaluating the predictions of the protein stability change upon single amino acid substitutions for the FXN CAGI5 challengeCastrense Savojardo, Maria Petrosino, Giulia Babbi, et al.
Human Mutation|June 19, 2019
Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt diseaseMubeen Khan, Stéphanie S Cornelis, Muhammad Imran Khan, et al.
Human Mutation|October 15, 2019
Disease-associated polymorphisms within the conserved ECR1 enhancer differentially regulate the tissue-specific activity of the cannabinoid-1 receptor gene promoter; implications for cannabinoid pharmacogeneticsElizabeth A Hay, Philip Cowie, Andrew R McEwan, et al.
Human Mutation|July 10, 2019
LOVD-DASH: A comprehensive LOVD database coupled with diagnosis and an at-risk assessment system for hemoglobinopathiesLi Zhang, Qianqian Zhang, Yaohua Tang, et al.
Human Mutation|July 12, 2019
Compound heterozygous ZP1 mutations cause empty follicle syndrome in infertile sistersLing Sun, Xiang Fang, Zhiheng Chen, et al.
Human Mutation|July 12, 2019
Novel SCA19/22-associated KCND3 mutations disrupt human K<sub>V</sub> 4.3 protein biosynthesis and channel gatingCheng-Tsung Hsiao, Ssu-Ju Fu, Yo-Tsen Liu, et al.
Human Mutation|July 4, 2019
What went wrong with variant effect predictor performance for the PCM1 challengeMaximilian Miller, Yanran Wang, Yana Bromberg
Pageof 655