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

A Raas-Rothschild

Showing results (31-40 of 36) with videos related to

Pageof 4
Sort By:
You have reached the last page of results.This site can display upto 36 results.
Journal of Medical Genetics|April 3, 2004
Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis IIIA Raas-Rothschild, R Bargal, O Goldman, et al.
Clinical Genetics|October 1, 2010
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversityM F Coutinho, M Encarnação, R Gomes, et al.
Journal of Medical Genetics|July 4, 2009
Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndromeH Vega, A H Trainer, M Gordillo, et al.
Nature Genetics|May 31, 2001
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4K Mykytyn, T Braun, R Carmi, et al.
Clinical Genetics|November 4, 2016
Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathyB Pode-Shakked, H Barash, L Ziv, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 12, 2019
Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite JewsM Weisz-Hubshman, H Meirson, R Michaelson-Cohen, et al.
Pageof 4

Showing results (31-40 of 36) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 36 results.
Journal of Medical Genetics|April 3, 2004
Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis IIIA Raas-Rothschild, R Bargal, O Goldman, et al.
Clinical Genetics|October 1, 2010
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversityM F Coutinho, M Encarnação, R Gomes, et al.
Journal of Medical Genetics|July 4, 2009
Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndromeH Vega, A H Trainer, M Gordillo, et al.
Nature Genetics|May 31, 2001
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4K Mykytyn, T Braun, R Carmi, et al.
Clinical Genetics|November 4, 2016
Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathyB Pode-Shakked, H Barash, L Ziv, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 12, 2019
Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite JewsM Weisz-Hubshman, H Meirson, R Michaelson-Cohen, et al.
Pageof 4