Human mutation - JoVE Visualize

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Human Mutation|April 6, 2021

Prediction of disease-associated functional variants in noncoding regions through a comprehensive analysis by integrating datasets and featuresYu Lu, Yiming Wu, Yuan Liu, et al.

Human Mutation|July 29, 2016

Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1Jacqueline Stella, Insa Buers, Koen van de Wetering, et al.

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.

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Showing results (1501-1510 of 5,778) with videos related to

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Pageof 578

Human Mutation|April 6, 2021

Prediction of disease-associated functional variants in noncoding regions through a comprehensive analysis by integrating datasets and featuresYu Lu, Yiming Wu, Yuan Liu, et al.

Human Mutation|July 29, 2016

Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1Jacqueline Stella, Insa Buers, Koen van de Wetering, et al.

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.

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