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Human mutation

Showing results (251-260 of 6,541) with videos related to

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Human Mutation|November 8, 2021
Identification of novel deep intronic PAH gene variants in patients diagnosed with phenylketonuriaXiaohua Jin, Yousheng Yan, Chuan Zhang, et al.
Human Mutation|November 24, 2021
Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiencyAstrid Sehested, Julia Meade, David Scheie, et al.
Human Mutation|September 1, 2019
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance diseaseWeisheng Chen, Jiachen Lin, Lianlei Wang, et al.
Human Mutation|August 10, 2019
Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4Zeinab Fadaie, Mubeen Khan, Marta Del Pozo-Valero, et al.
Human Mutation|August 10, 2019
Efficient variant data preparation for Human Mutation manuscripts: Variants and phenotypesJohan T den Dunnen
Human Mutation|August 6, 2019
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to lightPhilippine Garret, Céline Bris, Vincent Procaccio, et al.
Human Mutation|August 6, 2019
Genome-wide transcriptomic and proteomic studies of Rett syndrome mouse models identify common signaling pathways and cellular functions as potential therapeutic targetsRahul Krishnaraj, Florencia Haase, Bronte Coorey, et al.
Human Mutation|August 30, 2019
A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2Meliha Karsak, Konstantin Glebov, Marina Scheffold, et al.
Human Mutation|August 31, 2019
Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean alleleRahma Mani, Sabrina Belkacem, Zohra Soua, et al.
Human Mutation|September 18, 2022
Next-generation sequencing errors due to genetic variation in WRAP53 encoding TCAB1 on chromosome 17Sharon A Savage, Kristine Jones, Kedest Teshome, et al.
Pageof 655

Showing results (251-260 of 6,541) with videos related to

Sort By:
Pageof 655
Human Mutation|November 8, 2021
Identification of novel deep intronic PAH gene variants in patients diagnosed with phenylketonuriaXiaohua Jin, Yousheng Yan, Chuan Zhang, et al.
Human Mutation|November 24, 2021
Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiencyAstrid Sehested, Julia Meade, David Scheie, et al.
Human Mutation|September 1, 2019
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance diseaseWeisheng Chen, Jiachen Lin, Lianlei Wang, et al.
Human Mutation|August 10, 2019
Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4Zeinab Fadaie, Mubeen Khan, Marta Del Pozo-Valero, et al.
Human Mutation|August 10, 2019
Efficient variant data preparation for Human Mutation manuscripts: Variants and phenotypesJohan T den Dunnen
Human Mutation|August 6, 2019
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to lightPhilippine Garret, Céline Bris, Vincent Procaccio, et al.
Human Mutation|August 6, 2019
Genome-wide transcriptomic and proteomic studies of Rett syndrome mouse models identify common signaling pathways and cellular functions as potential therapeutic targetsRahul Krishnaraj, Florencia Haase, Bronte Coorey, et al.
Human Mutation|August 30, 2019
A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2Meliha Karsak, Konstantin Glebov, Marina Scheffold, et al.
Human Mutation|August 31, 2019
Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean alleleRahma Mani, Sabrina Belkacem, Zohra Soua, et al.
Human Mutation|September 18, 2022
Next-generation sequencing errors due to genetic variation in WRAP53 encoding TCAB1 on chromosome 17Sharon A Savage, Kristine Jones, Kedest Teshome, et al.
Pageof 655