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Exploring molecular mechanisms of human genetic diseases--two examples : autosomal dominant hearing loss (DFNA20/26) and autosomal recessive lysosomal storage disease, beta-mannosidosis

Exploring molecular mechanisms of human genetic diseases--two examples : autosomal dominant hearing loss (DFNA20/26) and autosomal recessive lysosomal storage disease, beta-mannosidosis

Text (2007)

Part of Electronic Theses & Dissertations

Hereditary deafness and mast cell tumors in dogs : sequence analysis of candidate genes from the melanocyte development pathway

Hereditary deafness and mast cell tumors in dogs : sequence analysis of candidate genes from the melanocyte development pathway

Text (2003)

Part of Electronic Theses & Dissertations

Molecular cloning of an unconventional myosin MYO15 and the identification of mutations of MYO15 responsible for human nonsyndromic deafness DFNB3

Molecular cloning of an unconventional myosin MYO15 and the identification of mutations of MYO15 responsible for human nonsyndromic deafness DFNB3

Text (1999)

Part of Electronic Theses & Dissertations

Mapping a new autosomal dominant hearing loss locus, DFNA20, ON 17Q25 and searching for the disease causing gene(s)

Mapping a new autosomal dominant hearing loss locus, DFNA20, ON 17Q25 and searching for the disease causing gene(s)

Text (2002)

Part of Electronic Theses & Dissertations

Mapping, mutation identification and expression study of DFNB3, a gene for human recessive deafnes [i.e. deafness]

Mapping, mutation identification and expression study of DFNB3, a gene for human recessive deafnes [i.e. deafness]

Text (1999)

Part of Electronic Theses & Dissertations

Functional analysis of cytoplasmic [gamma]-actin mutations causing non-syndromic, progressive autosomal dominant hearing loss

Functional analysis of cytoplasmic [gamma]-actin mutations causing non-syndromic, progressive autosomal dominant hearing loss

Korrapati, Soumya

Text (2009)

Part of Electronic Theses & Dissertations

Investigating DFNA20 mutations in {OCLCbr#DE}-actin : studies in yeast, cell culture, and mouse

Investigating DFNA20 mutations in {OCLCbr#DE}-actin : studies in yeast, cell culture, and mouse

Drummond, Meghan Chapman

Text (2010)

Part of Electronic Theses & Dissertations

Characterization of a DFNB1 deletion allele in a Michigan kindred of German descent

Characterization of a DFNB1 deletion allele in a Michigan kindred of German descent

Wilch, Ellen Shields

Text (2010)

Part of Electronic Theses & Dissertations