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

O Elpeleg

Showing results (11-20 of 23) with videos related to

Pageof 3
Sort By:
Israel Journal of Medical Sciences|February 1, 1989
Propionic acidemia--biochemical studiesV Barash, O Elpeleg, R Amit, et al.
American Journal of Medical Genetics. Part A|April 6, 2011
A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi JewsS Edvardson, C Jalas, A Shaag, et al.
Clinical Genetics|May 18, 2016
The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosisO Shamriz, A Shaag, B Yaacov, et al.
Clinical Genetics|September 30, 2016
Severe infantile male encephalopathy is a result of early post-zygotic WDR45 somatic mutationR Spiegel, S Shalev, D Bercovich, et al.
Journal of Inherited Metabolic Disease|March 21, 2007
Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutationR Spiegel, A Shaag, A Gutman, et al.
Journal of Medical Genetics|September 18, 2007
Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutationA Saada, A Shaag, S Arnon, et al.
Annals of Neurology|February 28, 2001
Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathyJ Loeffen, O Elpeleg, J Smeitink, et al.
Journal of Thrombosis and Haemostasis : JTH|April 16, 2015
Deleterious mutation in the FYB gene is associated with congenital autosomal recessive small-platelet thrombocytopeniaC Levin, A Koren, E Pretorius, et al.
American Journal of Human Genetics|April 16, 1998
Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunitL van den Heuvel, W Ruitenbeek, R Smeets, et al.
Nature Genetics|November 1, 2001
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNAH Mandel, R Szargel, V Labay, et al.
Pageof 3

Showing results (11-20 of 23) with videos related to

Sort By:
Pageof 3
Israel Journal of Medical Sciences|February 1, 1989
Propionic acidemia--biochemical studiesV Barash, O Elpeleg, R Amit, et al.
American Journal of Medical Genetics. Part A|April 6, 2011
A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi JewsS Edvardson, C Jalas, A Shaag, et al.
Clinical Genetics|May 18, 2016
The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosisO Shamriz, A Shaag, B Yaacov, et al.
Clinical Genetics|September 30, 2016
Severe infantile male encephalopathy is a result of early post-zygotic WDR45 somatic mutationR Spiegel, S Shalev, D Bercovich, et al.
Journal of Inherited Metabolic Disease|March 21, 2007
Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutationR Spiegel, A Shaag, A Gutman, et al.
Journal of Medical Genetics|September 18, 2007
Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutationA Saada, A Shaag, S Arnon, et al.
Annals of Neurology|February 28, 2001
Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathyJ Loeffen, O Elpeleg, J Smeitink, et al.
Journal of Thrombosis and Haemostasis : JTH|April 16, 2015
Deleterious mutation in the FYB gene is associated with congenital autosomal recessive small-platelet thrombocytopeniaC Levin, A Koren, E Pretorius, et al.
American Journal of Human Genetics|April 16, 1998
Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunitL van den Heuvel, W Ruitenbeek, R Smeets, et al.
Nature Genetics|November 1, 2001
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNAH Mandel, R Szargel, V Labay, et al.
Pageof 3