Stephanie M Fischer - JoVE Visualize

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American Journal of Medical Genetics. Part A|January 24, 2007

Branchio-oto-renal syndromeAmit Kochhar, Stephanie M Fischer, William J Kimberling, et al.

Human Mutation|March 12, 2008

SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BORAmit Kochhar, Dana J Orten, Jessica L Sorensen, et al.

European Journal of Pediatrics|September 25, 2008

Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairmentKimia Kahrizi, Marzieh Mohseni, Carla Nishimura, et al.

Human Mutation|September 15, 2004

GJB2: the spectrum of deafness-causing allele variants and their phenotypeHela Azaiez, G Parker Chamberlin, Stephanie M Fischer, et al.

Human Mutation|January 29, 2008

Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BORDana J Orten, Stephanie M Fischer, Jessica L Sorensen, et al.

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Showing results (1-10 of 5) with videos related to

Sort By:

Pageof 1

American Journal of Medical Genetics. Part A|January 24, 2007

Branchio-oto-renal syndromeAmit Kochhar, Stephanie M Fischer, William J Kimberling, et al.

Human Mutation|March 12, 2008

SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BORAmit Kochhar, Dana J Orten, Jessica L Sorensen, et al.

European Journal of Pediatrics|September 25, 2008

Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairmentKimia Kahrizi, Marzieh Mohseni, Carla Nishimura, et al.

Human Mutation|September 15, 2004

GJB2: the spectrum of deafness-causing allele variants and their phenotypeHela Azaiez, G Parker Chamberlin, Stephanie M Fischer, et al.

Human Mutation|January 29, 2008

Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BORDana J Orten, Stephanie M Fischer, Jessica L Sorensen, et al.

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