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Human mutation

Showing results (1431-1440 of 5,734) with videos related to

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Human Mutation|July 3, 2010
Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotypeVéronique Dutrannoy, Ilja Demuth, Ulrich Baumann, et al.
Human Mutation|July 31, 2010
Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseasesStuart A Scott, Lisa Edelmann, Liu Liu, et al.
Human Mutation|July 31, 2010
Locus-specific database domain and data content analysis: evolution and content maturation toward clinical useChristina Mitropoulou, Adam J Webb, Konstantinos Mitropoulos, et al.
Human Mutation|September 3, 2010
A rare novel deletion of the tyrosine hydroxylase gene in Parkinson diseaseGüney Bademci, Todd L Edwards, Andre L Torres, et al.
Human Mutation|September 3, 2010
Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) diseaseCamasamudram Vijayasarathy, Ruifang Sui, Yong Zeng, et al.
Human Mutation|June 3, 2010
Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencingEmilie Lalonde, Steffen Albrecht, Kevin C H Ha, et al.
Human Mutation|December 2, 2010
Dependence of colorectal cancer risk on the parent-of-origin of mutations in DNA mismatch repair genesChristine M van Vliet, James G Dowty, Jane L van Vliet, et al.
Human Mutation|December 2, 2010
Meiotic recombination favors the spreading of deleterious mutations in human populationsAnamaria Necşulea, Alexandra Popa, David N Cooper, et al.
Human Mutation|August 21, 2010
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxiasClaudia Cagnoli, Giovanni Stevanin, Alessandro Brussino, et al.
Human Mutation|August 21, 2010
miRNA genes and the brain: implications for psychiatric disordersDiego A Forero, Karlijn van der Ven, Patrick Callaerts, et al.
Pageof 574

Showing results (1431-1440 of 5,734) with videos related to

Sort By:
Pageof 574
Human Mutation|July 3, 2010
Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotypeVéronique Dutrannoy, Ilja Demuth, Ulrich Baumann, et al.
Human Mutation|July 31, 2010
Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseasesStuart A Scott, Lisa Edelmann, Liu Liu, et al.
Human Mutation|July 31, 2010
Locus-specific database domain and data content analysis: evolution and content maturation toward clinical useChristina Mitropoulou, Adam J Webb, Konstantinos Mitropoulos, et al.
Human Mutation|September 3, 2010
A rare novel deletion of the tyrosine hydroxylase gene in Parkinson diseaseGüney Bademci, Todd L Edwards, Andre L Torres, et al.
Human Mutation|September 3, 2010
Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) diseaseCamasamudram Vijayasarathy, Ruifang Sui, Yong Zeng, et al.
Human Mutation|June 3, 2010
Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencingEmilie Lalonde, Steffen Albrecht, Kevin C H Ha, et al.
Human Mutation|December 2, 2010
Dependence of colorectal cancer risk on the parent-of-origin of mutations in DNA mismatch repair genesChristine M van Vliet, James G Dowty, Jane L van Vliet, et al.
Human Mutation|December 2, 2010
Meiotic recombination favors the spreading of deleterious mutations in human populationsAnamaria Necşulea, Alexandra Popa, David N Cooper, et al.
Human Mutation|August 21, 2010
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxiasClaudia Cagnoli, Giovanni Stevanin, Alessandro Brussino, et al.
Human Mutation|August 21, 2010
miRNA genes and the brain: implications for psychiatric disordersDiego A Forero, Karlijn van der Ven, Patrick Callaerts, et al.
Pageof 574