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

Gail E Herman

Showing results (31-40 of 41) with videos related to

Pageof 5
Sort By:
The Journal of Pediatrics|July 25, 2006
Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe diseasePriya Sunil Kishnani, Marc Nicolino, Thomas Voit, et al.
Autism Research : Official Journal of the International Society for Autism Research|February 11, 2011
Contactin 4 as an autism susceptibility locusCatherine E Cottrell, Natalie Bir, Elizabeth Varga, et al.
American Journal of Medical Genetics. Part A|September 25, 2014
ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelinationLaila Shehata, Dimitre R Simeonov, Anja Raams, et al.
American Journal of Medical Genetics. Part A|December 23, 2011
Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delayEric A Muller, Swaroop Aradhya, Joan F Atkin, et al.
American Journal of Medical Genetics. Part A|March 26, 2011
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13CKaren W Gripp, Elizabeth Hopkins, Katia Sol-Church, 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.
Cancer Discovery|November 6, 2012
Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGF receptor inhibitors via increased EGF receptor degradationAnna Sukhanova, Andrey Gorin, Ilya G Serebriiskii, et al.
Human Mutation|June 1, 2018
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machineryRaman Kumar, Alison Gardner, Claire C Homan, et al.
Cell|March 25, 2017
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic ResearchTeri A Manolio, Douglas M Fowler, Lea M Starita, et al.
American Journal of Human Genetics|December 7, 2010
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndromeKeith W McLarren, Tesa M Severson, Christèle du Souich, et al.
Pageof 5

Showing results (31-40 of 41) with videos related to

Sort By:
Pageof 5
The Journal of Pediatrics|July 25, 2006
Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe diseasePriya Sunil Kishnani, Marc Nicolino, Thomas Voit, et al.
Autism Research : Official Journal of the International Society for Autism Research|February 11, 2011
Contactin 4 as an autism susceptibility locusCatherine E Cottrell, Natalie Bir, Elizabeth Varga, et al.
American Journal of Medical Genetics. Part A|September 25, 2014
ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelinationLaila Shehata, Dimitre R Simeonov, Anja Raams, et al.
American Journal of Medical Genetics. Part A|December 23, 2011
Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delayEric A Muller, Swaroop Aradhya, Joan F Atkin, et al.
American Journal of Medical Genetics. Part A|March 26, 2011
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13CKaren W Gripp, Elizabeth Hopkins, Katia Sol-Church, 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.
Cancer Discovery|November 6, 2012
Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGF receptor inhibitors via increased EGF receptor degradationAnna Sukhanova, Andrey Gorin, Ilya G Serebriiskii, et al.
Human Mutation|June 1, 2018
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machineryRaman Kumar, Alison Gardner, Claire C Homan, et al.
Cell|March 25, 2017
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic ResearchTeri A Manolio, Douglas M Fowler, Lea M Starita, et al.
American Journal of Human Genetics|December 7, 2010
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndromeKeith W McLarren, Tesa M Severson, Christèle du Souich, et al.
Pageof 5