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 (81-90 of 130) with videos related to

Pageof 13
Sort By:
Human Mutation|January 4, 2020
Hermansky-Pudlak syndrome: Mutation updateMarjan Huizing, May C V Malicdan, Jennifer A Wang, et al.
The Journal of Investigative Dermatology|August 12, 2011
Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descentCarmelo Carmona-Rivera, Gretchen Golas, Richard A Hess, et al.
The New England Journal of Medicine|December 27, 2002
Natural history of alkaptonuriaChanika Phornphutkul, Wendy J Introne, Monique B Perry, et al.
BMC Neurology|January 31, 2007
Intravenous immune globulin in hereditary inclusion body myopathy: a pilot studySusan Sparks, Goran Rakocevic, Galen Joe, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|July 29, 2015
Quantitative hydrophilic interaction chromatography-mass spectrometry analysis of N-acetylneuraminic acid and N-acetylmannosamine in human plasmaYifan Shi, Xin Xu, Meng Fang, et al.
American Journal of Medical Genetics. Part A|June 17, 2009
Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletionEilis A Boudreau, Kyle P Johnson, Angela R Jackman, et al.
Scientific Reports|August 13, 2025
Lysosomal free sialic acid storage disorder iPSC-derived neural cells display altered glycosphingolipid metabolismMarya S Sabir, Vukasin M Jovanovic, Seungmi Ryu, et al.
American Journal of Human Genetics|June 14, 2011
A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9Andrew R Cullinane, James A Curry, Carmelo Carmona-Rivera, et al.
Traffic (Copenhagen, Denmark)|May 5, 2012
The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organellesQing Yang, Xin He, Lin Yang, et al.
The Journal of Clinical Investigation|June 6, 2007
Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamineBelinda Galeano, Riko Klootwijk, Irini Manoli, et al.
Pageof 13

Showing results (81-90 of 130) with videos related to

Sort By:
Pageof 13
Human Mutation|January 4, 2020
Hermansky-Pudlak syndrome: Mutation updateMarjan Huizing, May C V Malicdan, Jennifer A Wang, et al.
The Journal of Investigative Dermatology|August 12, 2011
Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descentCarmelo Carmona-Rivera, Gretchen Golas, Richard A Hess, et al.
The New England Journal of Medicine|December 27, 2002
Natural history of alkaptonuriaChanika Phornphutkul, Wendy J Introne, Monique B Perry, et al.
BMC Neurology|January 31, 2007
Intravenous immune globulin in hereditary inclusion body myopathy: a pilot studySusan Sparks, Goran Rakocevic, Galen Joe, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|July 29, 2015
Quantitative hydrophilic interaction chromatography-mass spectrometry analysis of N-acetylneuraminic acid and N-acetylmannosamine in human plasmaYifan Shi, Xin Xu, Meng Fang, et al.
American Journal of Medical Genetics. Part A|June 17, 2009
Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletionEilis A Boudreau, Kyle P Johnson, Angela R Jackman, et al.
Scientific Reports|August 13, 2025
Lysosomal free sialic acid storage disorder iPSC-derived neural cells display altered glycosphingolipid metabolismMarya S Sabir, Vukasin M Jovanovic, Seungmi Ryu, et al.
American Journal of Human Genetics|June 14, 2011
A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9Andrew R Cullinane, James A Curry, Carmelo Carmona-Rivera, et al.
Traffic (Copenhagen, Denmark)|May 5, 2012
The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organellesQing Yang, Xin He, Lin Yang, et al.
The Journal of Clinical Investigation|June 6, 2007
Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamineBelinda Galeano, Riko Klootwijk, Irini Manoli, et al.
Pageof 13