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

Marjan Huizing

Showing results (51-60 of 130) with videos related to

Pageof 13
Sort By:
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|July 26, 2008
Allele-specific silencing of the dominant disease allele in sialuria by RNA interferenceRiko D Klootwijk, Paul J M Savelkoul, Carla Ciccone, et al.
Experimental Neurology|January 24, 2026
Molecular and biochemical insights into dysregulation of glycosphingolipid metabolism in a mouse model of lysosomal free sialic acid storage disorderMarya S Sabir, Mahin S Hossain, Laura Pollard, et al.
American Journal of Medical Genetics. Part A|June 18, 2016
Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variantPatra Yeetong, Thierry Vilboux, Carla Ciccone, et al.
Human Genetics|August 9, 2013
Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B genePetcharat Leoyklang, Kanya Suphapeetiporn, Chalurmpon Srichomthong, et al.
American Journal of Medical Genetics. Part A|June 10, 2003
Biochemical and molecular analyses of infantile free sialic acid storage disease in North American childrenRobert Kleta, David J Aughton, Michael J Rivkin, et al.
Pigment Cell Research|September 11, 2004
Rab27b is up-regulated in human Griscelli syndrome type II melanocytes and linked to the actin cytoskeleton via exon F-Myosin Va transcriptsWendy Westbroek, Jo Lambert, Sofie De Schepper, et al.
Molecular Genetics and Metabolism|August 23, 2005
Single nucleotide polymorphisms in the dystroglycan gene do not correlate with disease severity in hereditary inclusion body myopathyEmily Gottlieb, Carla Ciccone, Daniel Darvish, et al.
Annals of Human Genetics|June 16, 2009
Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprintingHoria Stanescu, Tyra G Wolfsberg, R Travis Moreland, et al.
Molecular Medicine (Cambridge, Mass.)|October 20, 2011
Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex diseaseBernadette R Gochuico, Marjan Huizing, Gretchen A Golas, et al.
Plos One|August 23, 2011
Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletionThierry Vilboux, Carla Ciccone, Jan K Blancato, et al.
Pageof 13

Showing results (51-60 of 130) with videos related to

Sort By:
Pageof 13
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|July 26, 2008
Allele-specific silencing of the dominant disease allele in sialuria by RNA interferenceRiko D Klootwijk, Paul J M Savelkoul, Carla Ciccone, et al.
Experimental Neurology|January 24, 2026
Molecular and biochemical insights into dysregulation of glycosphingolipid metabolism in a mouse model of lysosomal free sialic acid storage disorderMarya S Sabir, Mahin S Hossain, Laura Pollard, et al.
American Journal of Medical Genetics. Part A|June 18, 2016
Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variantPatra Yeetong, Thierry Vilboux, Carla Ciccone, et al.
Human Genetics|August 9, 2013
Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B genePetcharat Leoyklang, Kanya Suphapeetiporn, Chalurmpon Srichomthong, et al.
American Journal of Medical Genetics. Part A|June 10, 2003
Biochemical and molecular analyses of infantile free sialic acid storage disease in North American childrenRobert Kleta, David J Aughton, Michael J Rivkin, et al.
Pigment Cell Research|September 11, 2004
Rab27b is up-regulated in human Griscelli syndrome type II melanocytes and linked to the actin cytoskeleton via exon F-Myosin Va transcriptsWendy Westbroek, Jo Lambert, Sofie De Schepper, et al.
Molecular Genetics and Metabolism|August 23, 2005
Single nucleotide polymorphisms in the dystroglycan gene do not correlate with disease severity in hereditary inclusion body myopathyEmily Gottlieb, Carla Ciccone, Daniel Darvish, et al.
Annals of Human Genetics|June 16, 2009
Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprintingHoria Stanescu, Tyra G Wolfsberg, R Travis Moreland, et al.
Molecular Medicine (Cambridge, Mass.)|October 20, 2011
Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex diseaseBernadette R Gochuico, Marjan Huizing, Gretchen A Golas, et al.
Plos One|August 23, 2011
Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletionThierry Vilboux, Carla Ciccone, Jan K Blancato, et al.
Pageof 13