Human mutation - JoVE Visualize

Showing results (1491-1500 of 5,776) with videos related to

Pageof 578

Sort By:

Human Mutation|April 29, 1998

Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson diseaseE K Kim, O J Yoo, K Y Song, et al.

Human Mutation|April 29, 1998

Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma geneP Höglund, S Haila, K H Gustavson, et al.

Human Mutation|April 29, 1998

A novel single basepair insertion in exon 6 of the Bruton's tyrosine kinase (Btk) gene from a Japanese X-linked agammaglobulinemia patient with growth hormone insufficiencyK Abo, H Nishio, M J Lee, et al.

Human Mutation|July 21, 2016

Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency SyndromeHeleen M van der Klift, Arjen R Mensenkamp, Mark Drost, et al.

Human Mutation|July 27, 2016

Three-Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence-Structure Analysis of its Disease-Causing VariationsLouise A Metherell, José Afonso Guerra-Assunção, Michael J Sternberg, et al.

Human Mutation|April 28, 2015

An Interdomain KCNH2 Mutation Produces an Intermediate Long QT SyndromeMarika L Osterbur, Renjian Zheng, Robert Marion, et al.

Human Mutation|April 28, 2015

McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM GeneGisela Nogales-Gadea, Astrid Brull, Alfredo Santalla, et al.

Human Mutation|April 1, 1998

Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestryM M Hermans, M A Kroos, J A Smeitink, et al.

Human Mutation|April 1, 1998

Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemiaP Bosco, F Cali, C Meli, et al.

Human Mutation|January 1, 1993

A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplexM M Humphries, D M Sheils, G J Farrar, et al.

Pageof 578

Showing results (1491-1500 of 5,776) with videos related to

Sort By:

Pageof 578

Human Mutation|April 29, 1998

Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson diseaseE K Kim, O J Yoo, K Y Song, et al.

Human Mutation|April 29, 1998

Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma geneP Höglund, S Haila, K H Gustavson, et al.

Human Mutation|April 29, 1998

A novel single basepair insertion in exon 6 of the Bruton's tyrosine kinase (Btk) gene from a Japanese X-linked agammaglobulinemia patient with growth hormone insufficiencyK Abo, H Nishio, M J Lee, et al.

Human Mutation|July 21, 2016

Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency SyndromeHeleen M van der Klift, Arjen R Mensenkamp, Mark Drost, et al.

Human Mutation|July 27, 2016

Three-Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence-Structure Analysis of its Disease-Causing VariationsLouise A Metherell, José Afonso Guerra-Assunção, Michael J Sternberg, et al.

Human Mutation|April 28, 2015

An Interdomain KCNH2 Mutation Produces an Intermediate Long QT SyndromeMarika L Osterbur, Renjian Zheng, Robert Marion, et al.

Human Mutation|April 28, 2015

McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM GeneGisela Nogales-Gadea, Astrid Brull, Alfredo Santalla, et al.

Human Mutation|April 1, 1998

Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestryM M Hermans, M A Kroos, J A Smeitink, et al.

Human Mutation|April 1, 1998

Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemiaP Bosco, F Cali, C Meli, et al.

Human Mutation|January 1, 1993

A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplexM M Humphries, D M Sheils, G J Farrar, et al.

Pageof 578