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

David Valle

Showing results (21-30 of 146) with videos related to

Pageof 15
Sort By:
JIMD Reports|February 23, 2013
Neonatal cholestasis as initial manifestation of type 2 Gaucher disease: a continuum in the spectrum of early onset Gaucher diseaseAbdallah F Elias, Maria Ronningen Johnson, John K Boitnott, et al.
Journal of Assisted Reproduction and Genetics|July 6, 2019
Genetic diagnosis in first or second trimester pregnancy loss using exome sequencing: a systematic review of human essential genesSarah M Robbins, Matthew A Thimm, David Valle, et al.
The Journal of Biological Chemistry|August 27, 2009
Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiencyMartin Stucki, Terttu Suormala, Brian Fowler, et al.
The Journal of Biological Chemistry|June 29, 2007
MicroRNA (miRNA) transcriptome of mouse retina and identification of a sensory organ-specific miRNA clusterShunbin Xu, P Dane Witmer, Stephen Lumayag, et al.
Cold Spring Harbor Perspectives in Medicine|January 8, 2017
ATRX and DAXX: Mechanisms and MutationsMichael A Dyer, Zulekha A Qadeer, David Valle-Garcia, et al.
Molecular Genetics and Metabolism Reports|July 5, 2022
A neonate with ornithine aminotransferase deficiency; insights on the hyperammonemia-associated biochemical phenotype of gyrate atrophyAneta Kaczmarczyk, Mark Baker, Julianna Diddle, et al.
Neurogenetics|March 6, 2007
A novel gene derived from a segmental duplication shows perturbed expression in Alzheimer's diseaseDimitrios Avramopoulos, Ruihua Wang, David Valle, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|July 14, 2004
Use of an arginine-restricted diet to slow progression of visual loss in patients with gyrate atrophyMuriel I Kaiser-Kupfer, Rafael C Caruso, David Valle, et al.
Academic Medicine : Journal of the Association of American Medical Colleges|February 26, 2010
"Genes to society"--the logic and process of the new curriculum for the Johns Hopkins University School of MedicineCharles M Wiener, Patricia A Thomas, Elizabeth Goodspeed, et al.
Journal of Neuroscience Research|September 17, 2011
Role of microRNAs in central nervous system development and pathologyKarla F Meza-Sosa, David Valle-García, Gustavo Pedraza-Alva, et al.
Pageof 15

Showing results (21-30 of 146) with videos related to

Sort By:
Pageof 15
JIMD Reports|February 23, 2013
Neonatal cholestasis as initial manifestation of type 2 Gaucher disease: a continuum in the spectrum of early onset Gaucher diseaseAbdallah F Elias, Maria Ronningen Johnson, John K Boitnott, et al.
Journal of Assisted Reproduction and Genetics|July 6, 2019
Genetic diagnosis in first or second trimester pregnancy loss using exome sequencing: a systematic review of human essential genesSarah M Robbins, Matthew A Thimm, David Valle, et al.
The Journal of Biological Chemistry|August 27, 2009
Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiencyMartin Stucki, Terttu Suormala, Brian Fowler, et al.
The Journal of Biological Chemistry|June 29, 2007
MicroRNA (miRNA) transcriptome of mouse retina and identification of a sensory organ-specific miRNA clusterShunbin Xu, P Dane Witmer, Stephen Lumayag, et al.
Cold Spring Harbor Perspectives in Medicine|January 8, 2017
ATRX and DAXX: Mechanisms and MutationsMichael A Dyer, Zulekha A Qadeer, David Valle-Garcia, et al.
Molecular Genetics and Metabolism Reports|July 5, 2022
A neonate with ornithine aminotransferase deficiency; insights on the hyperammonemia-associated biochemical phenotype of gyrate atrophyAneta Kaczmarczyk, Mark Baker, Julianna Diddle, et al.
Neurogenetics|March 6, 2007
A novel gene derived from a segmental duplication shows perturbed expression in Alzheimer's diseaseDimitrios Avramopoulos, Ruihua Wang, David Valle, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|July 14, 2004
Use of an arginine-restricted diet to slow progression of visual loss in patients with gyrate atrophyMuriel I Kaiser-Kupfer, Rafael C Caruso, David Valle, et al.
Academic Medicine : Journal of the Association of American Medical Colleges|February 26, 2010
"Genes to society"--the logic and process of the new curriculum for the Johns Hopkins University School of MedicineCharles M Wiener, Patricia A Thomas, Elizabeth Goodspeed, et al.
Journal of Neuroscience Research|September 17, 2011
Role of microRNAs in central nervous system development and pathologyKarla F Meza-Sosa, David Valle-García, Gustavo Pedraza-Alva, et al.
Pageof 15