Human mutation - JoVE Visualize

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Human Mutation|January 1, 1997

Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS geneS Tomatsu, S Fukuda, A Cooper, et al.

Human Mutation|January 1, 1997

Molecular basis of heat labile hexosaminidase B among Jews and ArabsG Narkis, A Adam, L Jaber, et al.

Human Mutation|January 1, 1997

Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 familiesH Rouger, E LeGuern, N Birouk, et al.

Human Mutation|January 1, 1997

The repeat expansion detection method in the analysis of diseases with CAG/CTG repeat expansion: usefulness and limitationsL Martorell, M A Pujana, V Volpini, et al.

Human Mutation|January 1, 1997

Method for in situ investigation of mitochondrial DNA deletionsS A Kovalenko, P J Harms, M Tanaka, et al.

Human Mutation|August 24, 2021

VIP-HL: Semi-automated ACMG/AMP variant interpretation platform for genetic hearing lossJiguang Peng, Jiale Xiang, Xiangqian Jin, et al.

Human Mutation|August 24, 2021

Actionable genomic variants in 6045 participants from the Qatar Genome ProgramAmal Elfatih, Borbala Mifsud, Najeeb Syed, et al.

Human Mutation|December 18, 2004

Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1Snjezana Miocić, Mirella Filocamo, Silvia Dominissini, et al.

Human Mutation|February 12, 2005

MALDI-TOF MS and TaqMan assisted SNP genotyping of DNA isolated from formalin-fixed and paraffin-embedded tissues (FFPET)Malgorzata Jaremko, Christina Justenhoven, Benny K Abraham, et al.

Human Mutation|February 12, 2005

Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD)Carsten Bergmann, Fabian Küpper, Christian Dornia, et al.

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Showing results (1601-1610 of 5,820) with videos related to

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Pageof 582

Human Mutation|January 1, 1997

Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS geneS Tomatsu, S Fukuda, A Cooper, et al.

Human Mutation|January 1, 1997

Molecular basis of heat labile hexosaminidase B among Jews and ArabsG Narkis, A Adam, L Jaber, et al.

Human Mutation|January 1, 1997

Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 familiesH Rouger, E LeGuern, N Birouk, et al.

Human Mutation|January 1, 1997

The repeat expansion detection method in the analysis of diseases with CAG/CTG repeat expansion: usefulness and limitationsL Martorell, M A Pujana, V Volpini, et al.

Human Mutation|January 1, 1997

Method for in situ investigation of mitochondrial DNA deletionsS A Kovalenko, P J Harms, M Tanaka, et al.

Human Mutation|August 24, 2021

VIP-HL: Semi-automated ACMG/AMP variant interpretation platform for genetic hearing lossJiguang Peng, Jiale Xiang, Xiangqian Jin, et al.

Human Mutation|August 24, 2021

Actionable genomic variants in 6045 participants from the Qatar Genome ProgramAmal Elfatih, Borbala Mifsud, Najeeb Syed, et al.

Human Mutation|December 18, 2004

Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1Snjezana Miocić, Mirella Filocamo, Silvia Dominissini, et al.

Human Mutation|February 12, 2005

MALDI-TOF MS and TaqMan assisted SNP genotyping of DNA isolated from formalin-fixed and paraffin-embedded tissues (FFPET)Malgorzata Jaremko, Christina Justenhoven, Benny K Abraham, et al.

Human Mutation|February 12, 2005

Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD)Carsten Bergmann, Fabian Küpper, Christian Dornia, et al.

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