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Human mutation

Showing results (201-210 of 6,541) with videos related to

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Human Mutation|November 1, 2020
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathyToshiyuki Itai, Kohei Hamanaka, Kazunori Sasaki, et al.
Human Mutation|November 1, 2020
Efficient detection of copy-number variations using exome data: Batch- and sex-based analysesYuri Uchiyama, Daisuke Yamaguchi, Kazuhiro Iwama, et al.
Human Mutation|September 9, 2020
Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano-like patternTomoe Yanagishita, Taichi Imaizumi, Keiko Yamamoto-Shimojima, et al.
Human Mutation|September 16, 2020
Rescue of common exon-skipping mutations in cystic fibrosis with modified U1 snRNAsStefano Donegà, Malgorzata Ewa Rogalska, Giulia Pianigiani, et al.
Human Mutation|March 21, 2020
Targeted resequencing reveals rare variants enrichment in multiple sclerosis susceptibility genesElia Gil-Varea, Nino Spataro, Luisa María Villar, et al.
Human Mutation|January 31, 2020
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertilityGiulia Ascari, Frank Peelman, Pietro Farinelli, et al.
Human Mutation|January 21, 2020
Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiencyRaffaella Rossetti, Ilaria Ferrari, Ilaria Bestetti, et al.
Human Mutation|April 1, 2020
CACNA1H variants are not a cause of monogenic epilepsyJeffrey D Calhoun, Alexandra M Huffman, Irena Bellinski, et al.
Human Mutation|March 4, 2020
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoformGuy Helman, Asako Takanohashi, Tracy L Hagemann, et al.
Human Mutation|November 24, 2019
Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variantsFranca Vulinovic, Victor Krajka, Torben J Hausrat, et al.
Pageof 655

Showing results (201-210 of 6,541) with videos related to

Sort By:
Pageof 655
Human Mutation|November 1, 2020
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathyToshiyuki Itai, Kohei Hamanaka, Kazunori Sasaki, et al.
Human Mutation|November 1, 2020
Efficient detection of copy-number variations using exome data: Batch- and sex-based analysesYuri Uchiyama, Daisuke Yamaguchi, Kazuhiro Iwama, et al.
Human Mutation|September 9, 2020
Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano-like patternTomoe Yanagishita, Taichi Imaizumi, Keiko Yamamoto-Shimojima, et al.
Human Mutation|September 16, 2020
Rescue of common exon-skipping mutations in cystic fibrosis with modified U1 snRNAsStefano Donegà, Malgorzata Ewa Rogalska, Giulia Pianigiani, et al.
Human Mutation|March 21, 2020
Targeted resequencing reveals rare variants enrichment in multiple sclerosis susceptibility genesElia Gil-Varea, Nino Spataro, Luisa María Villar, et al.
Human Mutation|January 31, 2020
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertilityGiulia Ascari, Frank Peelman, Pietro Farinelli, et al.
Human Mutation|January 21, 2020
Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiencyRaffaella Rossetti, Ilaria Ferrari, Ilaria Bestetti, et al.
Human Mutation|April 1, 2020
CACNA1H variants are not a cause of monogenic epilepsyJeffrey D Calhoun, Alexandra M Huffman, Irena Bellinski, et al.
Human Mutation|March 4, 2020
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoformGuy Helman, Asako Takanohashi, Tracy L Hagemann, et al.
Human Mutation|November 24, 2019
Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variantsFranca Vulinovic, Victor Krajka, Torben J Hausrat, et al.
Pageof 655