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Sherri J Bale

Showing results (1-10 of 21) with videos related to

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American Journal of Medical Genetics. Part A|August 15, 2009
Genetic testing in ectodermal dysplasia: availability, clinical utility, and the nuts and bolts of ordering a genetic testSherri J Bale, Allison G Mitchell
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 23, 2008
Molecular genetic testing for ultra rare diseases: models for translation from the research laboratory to the CLIA-certified diagnostic laboratoryS Das, Sherri J Bale, David H Ledbetter
The Laryngoscope|March 13, 2002
Auditory manifestations of Keratitis-Ichthyosis-Deafness (KID) syndromeYvonne M Szymko-Bennett, Laura J Russell, Sherri J Bale, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 17, 2004
Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndromeVirginia E Kimonis, Sarju G Mehta, John J Digiovanna, et al.
Experimental Dermatology|December 11, 2002
Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1John G Compton, John J DiGiovanna, Kay A Johnston, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2012
Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndromeVirginia E Kimonis, Kathryn E Singh, Rocksheng Zhong, et al.
Plos One|November 22, 2013
Findings from the Peutz-Jeghers syndrome registry of uruguayAsadur Tchekmedyian, Christopher I Amos, Sherri J Bale, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generationsKatherine A Rauen, William E Tidyman, Anne L Estep, et al.
The Journal of Investigative Dermatology|September 17, 2002
Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genesEli Sprecher, Peter Itin, Neil V Whittock, et al.
Human Mutation|February 26, 2009
Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1Matthew L Herman, Sharifeh Farasat, Peter J Steinbach, et al.
Pageof 3

Showing results (1-10 of 21) with videos related to

Sort By:
Pageof 3
American Journal of Medical Genetics. Part A|August 15, 2009
Genetic testing in ectodermal dysplasia: availability, clinical utility, and the nuts and bolts of ordering a genetic testSherri J Bale, Allison G Mitchell
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 23, 2008
Molecular genetic testing for ultra rare diseases: models for translation from the research laboratory to the CLIA-certified diagnostic laboratoryS Das, Sherri J Bale, David H Ledbetter
The Laryngoscope|March 13, 2002
Auditory manifestations of Keratitis-Ichthyosis-Deafness (KID) syndromeYvonne M Szymko-Bennett, Laura J Russell, Sherri J Bale, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 17, 2004
Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndromeVirginia E Kimonis, Sarju G Mehta, John J Digiovanna, et al.
Experimental Dermatology|December 11, 2002
Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1John G Compton, John J DiGiovanna, Kay A Johnston, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2012
Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndromeVirginia E Kimonis, Kathryn E Singh, Rocksheng Zhong, et al.
Plos One|November 22, 2013
Findings from the Peutz-Jeghers syndrome registry of uruguayAsadur Tchekmedyian, Christopher I Amos, Sherri J Bale, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generationsKatherine A Rauen, William E Tidyman, Anne L Estep, et al.
The Journal of Investigative Dermatology|September 17, 2002
Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genesEli Sprecher, Peter Itin, Neil V Whittock, et al.
Human Mutation|February 26, 2009
Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1Matthew L Herman, Sharifeh Farasat, Peter J Steinbach, et al.
Pageof 3