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A J Griffith

Showing results (21-30 of 41) with videos related to

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American Journal of Human Genetics|June 13, 1998
Marshall syndrome associated with a splicing defect at the COL11A1 locusA J Griffith, L K Sprunger, D A Sirko-Osadsa, et al.
American Journal of Human Genetics|July 21, 2000
Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delTA J Griffith, A A Chowdhry, K Kurima, et al.
Clinical Genetics|November 22, 2007
Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA(Ser(UCN)) in sensorineural hearing lossV Labay, G Garrido, A C Madeo, et al.
Journal of Medical Genetics|May 15, 2003
Distinctive audiometric profile associated with DFNB21 alleles of TECTAS Naz, F Alasti, A Mowjoodi, et al.
Clinical Genetics|March 3, 2009
Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in PakistanB Y Choi, Z M Ahmed, S Riazuddin, et al.
Journal of Medical Genetics|August 3, 2004
Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunctionS Naz, A J Griffith, S Riazuddin, et al.
Clinical Genetics|February 19, 2008
A locus for autosomal dominant progressive non-syndromic hearing loss, DFNA27, is on chromosome 4q12-13.1L M Peters, R A Fridell, E T Boger, et al.
American Journal of Human Genetics|June 9, 2001
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1FZ M Ahmed, S Riazuddin, S L Bernstein, et al.
Clinical Genetics|September 20, 2007
Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in PakistanS-I Kitajiri, R McNamara, T Makishima, et al.
Genomics|June 15, 1996
Localization of the homolog of a mouse craniofacial mutant to human chromosome 18q11 and evaluation of linkage to human CLP and CPOA J Griffith, D L Burgess, D C Kohrman, et al.
Pageof 5

Showing results (21-30 of 41) with videos related to

Sort By:
Pageof 5
American Journal of Human Genetics|June 13, 1998
Marshall syndrome associated with a splicing defect at the COL11A1 locusA J Griffith, L K Sprunger, D A Sirko-Osadsa, et al.
American Journal of Human Genetics|July 21, 2000
Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delTA J Griffith, A A Chowdhry, K Kurima, et al.
Clinical Genetics|November 22, 2007
Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA(Ser(UCN)) in sensorineural hearing lossV Labay, G Garrido, A C Madeo, et al.
Journal of Medical Genetics|May 15, 2003
Distinctive audiometric profile associated with DFNB21 alleles of TECTAS Naz, F Alasti, A Mowjoodi, et al.
Clinical Genetics|March 3, 2009
Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in PakistanB Y Choi, Z M Ahmed, S Riazuddin, et al.
Journal of Medical Genetics|August 3, 2004
Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunctionS Naz, A J Griffith, S Riazuddin, et al.
Clinical Genetics|February 19, 2008
A locus for autosomal dominant progressive non-syndromic hearing loss, DFNA27, is on chromosome 4q12-13.1L M Peters, R A Fridell, E T Boger, et al.
American Journal of Human Genetics|June 9, 2001
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1FZ M Ahmed, S Riazuddin, S L Bernstein, et al.
Clinical Genetics|September 20, 2007
Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in PakistanS-I Kitajiri, R McNamara, T Makishima, et al.
Genomics|June 15, 1996
Localization of the homolog of a mouse craniofacial mutant to human chromosome 18q11 and evaluation of linkage to human CLP and CPOA J Griffith, D L Burgess, D C Kohrman, et al.
Pageof 5