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 (31-40 of 146) with videos related to

Pageof 15
Sort By:
Journal of Inherited Metabolic Disease|May 23, 2022
A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemiaSangwoo T Han, Katherine J Anderson, Hans T Bjornsson, et al.
Nucleic Acids Research|December 26, 2001
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disordersAda Hamosh, Alan F Scott, Joanna Amberger, et al.
Springerplus|May 17, 2014
The ATRX cDNA is prone to bacterial IS10 element insertions that alter its structureDavid Valle-García, Lyra M Griffiths, Michael A Dyer, et al.
Amino Acids|May 29, 2008
Functional genomics and SNP analysis of human genes encoding proline metabolic enzymesChien-An A Hu, D Bart Williams, Siqin Zhaorigetu, et al.
Molecular and Cellular Biology|May 25, 2002
PEX11 beta deficiency is lethal and impairs neuronal migration but does not abrogate peroxisome functionXiaoling Li, Eveline Baumgart, James C Morrell, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 16, 2007
The human disease networkKwang-Il Goh, Michael E Cusick, David Valle, et al.
Frontiers in Pharmacology|March 22, 2017
Skeletal Dysplasias: Growing Therapy for Growing BonesAngie C Jelin, Elizabeth O'Hare, Karin Blakemore, et al.
American Journal of Human Genetics|April 29, 2005
Alternative splicing suggests extended function of PEX26 in peroxisome biogenesisSabine Weller, Ivelisse Cajigas, James Morrell, et al.
Human Mutation|February 5, 2013
PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic featuresAda Hamosh, Nara Sobreira, Julie Hoover-Fong, et al.
Human Mutation|July 13, 2005
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screeningMaria Fernanda Dantas, Terttu Suormala, Ann Randolph, et al.
Pageof 15

Showing results (31-40 of 146) with videos related to

Sort By:
Pageof 15
Journal of Inherited Metabolic Disease|May 23, 2022
A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemiaSangwoo T Han, Katherine J Anderson, Hans T Bjornsson, et al.
Nucleic Acids Research|December 26, 2001
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disordersAda Hamosh, Alan F Scott, Joanna Amberger, et al.
Springerplus|May 17, 2014
The ATRX cDNA is prone to bacterial IS10 element insertions that alter its structureDavid Valle-García, Lyra M Griffiths, Michael A Dyer, et al.
Amino Acids|May 29, 2008
Functional genomics and SNP analysis of human genes encoding proline metabolic enzymesChien-An A Hu, D Bart Williams, Siqin Zhaorigetu, et al.
Molecular and Cellular Biology|May 25, 2002
PEX11 beta deficiency is lethal and impairs neuronal migration but does not abrogate peroxisome functionXiaoling Li, Eveline Baumgart, James C Morrell, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 16, 2007
The human disease networkKwang-Il Goh, Michael E Cusick, David Valle, et al.
Frontiers in Pharmacology|March 22, 2017
Skeletal Dysplasias: Growing Therapy for Growing BonesAngie C Jelin, Elizabeth O'Hare, Karin Blakemore, et al.
American Journal of Human Genetics|April 29, 2005
Alternative splicing suggests extended function of PEX26 in peroxisome biogenesisSabine Weller, Ivelisse Cajigas, James Morrell, et al.
Human Mutation|February 5, 2013
PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic featuresAda Hamosh, Nara Sobreira, Julie Hoover-Fong, et al.
Human Mutation|July 13, 2005
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screeningMaria Fernanda Dantas, Terttu Suormala, Ann Randolph, et al.
Pageof 15