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Human mutation

Showing results (1491-1500 of 5,734) with videos related to

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Human Mutation|June 17, 2015
Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSFCsilla H Lazar, Adva Kimchi, Prasanthi Namburi, et al.
Human Mutation|June 23, 2015
Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet SyndromeXiaojing Xu, Xiaoxu Yang, Qixi Wu, et al.
Human Mutation|October 26, 2017
Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplificationLaia Bassaganyas, George Freedman, Dedeepya Vaka, et al.
Human Mutation|October 26, 2017
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndromeAshley P L Marsh, Timothy J Edwards, Charles Galea, et al.
Human Mutation|January 13, 2018
Molecular phenotype of SLC4A11 missense mutants: Setting the stage for personalized medicine in corneal dystrophiesKumari Alka, Joseph R Casey
Human Mutation|December 29, 2017
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspectsAyman W El-Hattab, Julia Wang, Hongzheng Dai, et al.
Human Mutation|December 22, 2017
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variantSarah A Sandaradura, Adam Bournazos, Amali Mallawaarachchi, et al.
Human Mutation|December 23, 2017
Cis variants identified in F508del complex alleles modulate CFTR channel rescue by small moleculesNesrine Baatallah, Sara Bitam, Natacha Martin, et al.
Human Mutation|December 14, 2017
Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathyJamie A Abbott, Rebecca Meyer-Schuman, Vincenzo Lupo, et al.
Human Mutation|November 7, 2017
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromesTakayasu Mori, Matthew J Yousefzadeh, Maryam Faridounnia, et al.
Pageof 574

Showing results (1491-1500 of 5,734) with videos related to

Sort By:
Pageof 574
Human Mutation|June 17, 2015
Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSFCsilla H Lazar, Adva Kimchi, Prasanthi Namburi, et al.
Human Mutation|June 23, 2015
Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet SyndromeXiaojing Xu, Xiaoxu Yang, Qixi Wu, et al.
Human Mutation|October 26, 2017
Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplificationLaia Bassaganyas, George Freedman, Dedeepya Vaka, et al.
Human Mutation|October 26, 2017
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndromeAshley P L Marsh, Timothy J Edwards, Charles Galea, et al.
Human Mutation|January 13, 2018
Molecular phenotype of SLC4A11 missense mutants: Setting the stage for personalized medicine in corneal dystrophiesKumari Alka, Joseph R Casey
Human Mutation|December 29, 2017
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspectsAyman W El-Hattab, Julia Wang, Hongzheng Dai, et al.
Human Mutation|December 22, 2017
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variantSarah A Sandaradura, Adam Bournazos, Amali Mallawaarachchi, et al.
Human Mutation|December 23, 2017
Cis variants identified in F508del complex alleles modulate CFTR channel rescue by small moleculesNesrine Baatallah, Sara Bitam, Natacha Martin, et al.
Human Mutation|December 14, 2017
Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathyJamie A Abbott, Rebecca Meyer-Schuman, Vincenzo Lupo, et al.
Human Mutation|November 7, 2017
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromesTakayasu Mori, Matthew J Yousefzadeh, Maryam Faridounnia, et al.
Pageof 574