Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Sherri J Bale

Showing results (11-20 of 21) with videos related to

Pageof 3
Sort By:
Human Genetics|April 10, 2002
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephalyJeffrey E Ming, Michelle E Kaupas, Erich Roessler, et al.
American Journal of Human Genetics|March 26, 2002
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndromeGabriele Richard, Fatima Rouan, Colin E Willoughby, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 27, 2013
ACMG clinical laboratory standards for next-generation sequencingHeidi L Rehm, Sherri J Bale, Pinar Bayrak-Toydemir, et al.
Journal of Dermatological Science|May 23, 2008
Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenitaSancy A Leachman, Robyn P Hickerson, Peter R Hull, et al.
Human Mutation|May 29, 2013
Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutationsAileen M Barnes, Geraldine Duncan, Maryann Weis, et al.
The Journal of Investigative Dermatology|March 22, 2003
Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlationsGabriele Richard, Nkecha Brown, Fatima Rouan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 18, 2016
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and GenomicsSarah S Kalia, Kathy Adelman, Sherri J Bale, et al.
Nature Genetics|January 31, 2006
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgarisFrances J D Smith, Alan D Irvine, Ana Terron-Kwiatkowski, et al.
Nature Genetics|March 22, 2006
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitisColin N A Palmer, Alan D Irvine, Ana Terron-Kwiatkowski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 5, 2016
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratoriesJulianne M O'Daniel, Heather M McLaughlin, Laura M Amendola, et al.
Pageof 3

Showing results (11-20 of 21) with videos related to

Sort By:
Pageof 3
Human Genetics|April 10, 2002
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephalyJeffrey E Ming, Michelle E Kaupas, Erich Roessler, et al.
American Journal of Human Genetics|March 26, 2002
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndromeGabriele Richard, Fatima Rouan, Colin E Willoughby, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 27, 2013
ACMG clinical laboratory standards for next-generation sequencingHeidi L Rehm, Sherri J Bale, Pinar Bayrak-Toydemir, et al.
Journal of Dermatological Science|May 23, 2008
Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenitaSancy A Leachman, Robyn P Hickerson, Peter R Hull, et al.
Human Mutation|May 29, 2013
Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutationsAileen M Barnes, Geraldine Duncan, Maryann Weis, et al.
The Journal of Investigative Dermatology|March 22, 2003
Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlationsGabriele Richard, Nkecha Brown, Fatima Rouan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 18, 2016
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and GenomicsSarah S Kalia, Kathy Adelman, Sherri J Bale, et al.
Nature Genetics|January 31, 2006
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgarisFrances J D Smith, Alan D Irvine, Ana Terron-Kwiatkowski, et al.
Nature Genetics|March 22, 2006
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitisColin N A Palmer, Alan D Irvine, Ana Terron-Kwiatkowski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 5, 2016
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratoriesJulianne M O'Daniel, Heather M McLaughlin, Laura M Amendola, et al.
Pageof 3