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Sherri Bale

Showing results (11-20 of 38) with videos related to

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Nature Biotechnology|February 9, 2011
MutaDATABASE: a centralized and standardized DNA variation databaseSherri Bale, Martijn Devisscher, Wim Van Criekinge, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 17, 2008
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007C Sue Richards, Sherri Bale, Daniel B Bellissimo, et al.
Archives of Dermatology|May 18, 2011
Paternal germ cell mosaicism in autosomal dominant pachyonychia congenitaLana N Pho, Frances J D Smith, David Konecki, et al.
Human Molecular Genetics|September 16, 2008
Mutations in the human SIX3 gene in holoprosencephaly are loss of functionSabina Domené, Erich Roessler, Kenia B El-Jaick, et al.
Human Mutation|January 30, 2009
The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanismErich Roessler, Felicitas Lacbawan, Christèle Dubourg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 6, 2015
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular PathologySue Richards, Nazneen Aziz, Sherri Bale, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 17, 2017
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVarSteven M Harrison, Jill S Dolinsky, Amy E Knight Johnson, et al.
American Journal of Medical Genetics. Part A|July 16, 2008
An intronic mutation in DKC1 in an infant with Høyeraal-Hreidarsson syndromeToni Pearson, Fiona Curtis, Ayman Al-Eyadhy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 16, 2018
Response to Biesecker and HarrisonC Sue Richards, Nazneen Aziz, Sherri Bale, et al.
Leukemia Research|October 22, 2008
Oligonucleotide array CGH studies in myeloproliferative neoplasms: comparison with JAK2V617F mutational status and conventional chromosome analysisAyalew Tefferi, Shireen Sirhan, Yi Sun, et al.
Pageof 4

Showing results (11-20 of 38) with videos related to

Sort By:
Pageof 4
Nature Biotechnology|February 9, 2011
MutaDATABASE: a centralized and standardized DNA variation databaseSherri Bale, Martijn Devisscher, Wim Van Criekinge, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 17, 2008
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007C Sue Richards, Sherri Bale, Daniel B Bellissimo, et al.
Archives of Dermatology|May 18, 2011
Paternal germ cell mosaicism in autosomal dominant pachyonychia congenitaLana N Pho, Frances J D Smith, David Konecki, et al.
Human Molecular Genetics|September 16, 2008
Mutations in the human SIX3 gene in holoprosencephaly are loss of functionSabina Domené, Erich Roessler, Kenia B El-Jaick, et al.
Human Mutation|January 30, 2009
The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanismErich Roessler, Felicitas Lacbawan, Christèle Dubourg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 6, 2015
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular PathologySue Richards, Nazneen Aziz, Sherri Bale, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 17, 2017
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVarSteven M Harrison, Jill S Dolinsky, Amy E Knight Johnson, et al.
American Journal of Medical Genetics. Part A|July 16, 2008
An intronic mutation in DKC1 in an infant with Høyeraal-Hreidarsson syndromeToni Pearson, Fiona Curtis, Ayman Al-Eyadhy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 16, 2018
Response to Biesecker and HarrisonC Sue Richards, Nazneen Aziz, Sherri Bale, et al.
Leukemia Research|October 22, 2008
Oligonucleotide array CGH studies in myeloproliferative neoplasms: comparison with JAK2V617F mutational status and conventional chromosome analysisAyalew Tefferi, Shireen Sirhan, Yi Sun, et al.
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