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R J H Smith

Showing results (11-20 of 25) with videos related to

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Journal of Medical Genetics|June 3, 2004
DFNA5: hearing impairment exon instead of hearing impairment gene?L Van Laer, K Vrijens, S Thys, et al.
Clinical Genetics|September 9, 2015
Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss populationH Moteki, H Azaiez, K T Booth, et al.
American Journal of Human Genetics|September 19, 2003
Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26)M Zhu, T Yang, S Wei, et al.
Clinical Genetics|February 6, 2010
Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutationM S Hildebrand, N P Thorne, C J Bromhead, et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons|July 20, 2016
Screening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing StrategyC P Thomas, M A Mansilla, R Sompallae, et al.
Journal of Medical Genetics|November 22, 2005
Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease)M A Abrera-Abeleda, C Nishimura, J L H Smith, et al.
Journal of Medical Genetics|December 24, 2005
OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy alleleR Varga, M R Avenarius, P M Kelley, et al.
Journal of Medical Genetics|June 3, 2004
A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22-24K Van Den Bogaert, E M R De Leenheer, W Chen, et al.
Clinical Genetics|June 2, 2016
Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian familiesK Lebeko, C M Sloan-Heggen, J J N Noubiap, et al.
Journal of Medical Genetics|July 13, 2002
Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3W Chen, C A Campbell, G E Green, et al.
Pageof 3

Showing results (11-20 of 25) with videos related to

Sort By:
Pageof 3
Journal of Medical Genetics|June 3, 2004
DFNA5: hearing impairment exon instead of hearing impairment gene?L Van Laer, K Vrijens, S Thys, et al.
Clinical Genetics|September 9, 2015
Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss populationH Moteki, H Azaiez, K T Booth, et al.
American Journal of Human Genetics|September 19, 2003
Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26)M Zhu, T Yang, S Wei, et al.
Clinical Genetics|February 6, 2010
Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutationM S Hildebrand, N P Thorne, C J Bromhead, et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons|July 20, 2016
Screening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing StrategyC P Thomas, M A Mansilla, R Sompallae, et al.
Journal of Medical Genetics|November 22, 2005
Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease)M A Abrera-Abeleda, C Nishimura, J L H Smith, et al.
Journal of Medical Genetics|December 24, 2005
OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy alleleR Varga, M R Avenarius, P M Kelley, et al.
Journal of Medical Genetics|June 3, 2004
A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22-24K Van Den Bogaert, E M R De Leenheer, W Chen, et al.
Clinical Genetics|June 2, 2016
Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian familiesK Lebeko, C M Sloan-Heggen, J J N Noubiap, et al.
Journal of Medical Genetics|July 13, 2002
Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3W Chen, C A Campbell, G E Green, et al.
Pageof 3