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 Bale

Showing results (21-30 of 38) with videos related to

Pageof 4
Sort By:
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 31, 2014
Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohortKyle Retterer, Julie Scuffins, Daniel Schmidt, et al.
American Journal of Medical Genetics. Part A|November 19, 2009
Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndromeVered Shkalim, Hagit N Baris, Gavriel Gal, et al.
Journal of Medical Genetics|November 8, 2015
Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi geneSimon Edvardson, Shingo Kose, Chaim Jalas, et al.
The Journal of Molecular Diagnostics : JMD|February 17, 2015
Reporting incidental findings in genomic scale clinical sequencing--a clinical laboratory perspective: a report of the Association for Molecular PathologyMadhuri Hegde, Sherri Bale, Pinar Bayrak-Toydemir, et al.
The Journal of Molecular Diagnostics : JMD|February 11, 2014
Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testingLisa V Kalman, Jack C Tarleton, Alan K Percy, et al.
Human Mutation|July 16, 2009
The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesisErich Roessler, Kenia B El-Jaick, Christèle Dubourg, et al.
American Journal of Medical Genetics. Part A|May 3, 2016
Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorderFrancisca Millan, Megan T Cho, Kyle Retterer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 4, 2015
Clinical application of whole-exome sequencing across clinical indicationsKyle Retterer, Jane Juusola, Megan T Cho, et al.
Academic Pathology|August 18, 2017
The Case for Laboratory Developed Procedures: Quality and Positive Impact on Patient CareKaren L Kaul, Linda M Sabatini, Gregory J Tsongalis, et al.
Journal of Medical Genetics|June 5, 2015
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelinationNadirah Damseh, Alexandre Simonin, Chaim Jalas, et al.
Pageof 4

Showing results (21-30 of 38) with videos related to

Sort By:
Pageof 4
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 31, 2014
Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohortKyle Retterer, Julie Scuffins, Daniel Schmidt, et al.
American Journal of Medical Genetics. Part A|November 19, 2009
Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndromeVered Shkalim, Hagit N Baris, Gavriel Gal, et al.
Journal of Medical Genetics|November 8, 2015
Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi geneSimon Edvardson, Shingo Kose, Chaim Jalas, et al.
The Journal of Molecular Diagnostics : JMD|February 17, 2015
Reporting incidental findings in genomic scale clinical sequencing--a clinical laboratory perspective: a report of the Association for Molecular PathologyMadhuri Hegde, Sherri Bale, Pinar Bayrak-Toydemir, et al.
The Journal of Molecular Diagnostics : JMD|February 11, 2014
Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testingLisa V Kalman, Jack C Tarleton, Alan K Percy, et al.
Human Mutation|July 16, 2009
The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesisErich Roessler, Kenia B El-Jaick, Christèle Dubourg, et al.
American Journal of Medical Genetics. Part A|May 3, 2016
Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorderFrancisca Millan, Megan T Cho, Kyle Retterer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 4, 2015
Clinical application of whole-exome sequencing across clinical indicationsKyle Retterer, Jane Juusola, Megan T Cho, et al.
Academic Pathology|August 18, 2017
The Case for Laboratory Developed Procedures: Quality and Positive Impact on Patient CareKaren L Kaul, Linda M Sabatini, Gregory J Tsongalis, et al.
Journal of Medical Genetics|June 5, 2015
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelinationNadirah Damseh, Alexandre Simonin, Chaim Jalas, et al.
Pageof 4