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Marjan Huizing

Showing results (101-110 of 130) with videos related to

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Journal of Inherited Metabolic Disease|October 19, 2013
Non-specific accumulation of glycosphingolipids in GNE myopathyKatherine A Patzel, Tal Yardeni, Erell Le Poëc-Celic, et al.
Blood|July 22, 2004
Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complexBabette Gwynn, Jose A Martina, Juan S Bonifacino, et al.
Molecular Genetics and Metabolism|November 17, 2009
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosisMeral Gunay-Aygun, Maya Tuchman, Esperanza Font-Montgomery, et al.
The Journal of Pediatrics|June 23, 2009
MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert SyndromeMeral Gunay-Aygun, Melissa A Parisi, Dan Doherty, et al.
The American Journal of Pathology|February 11, 2012
The Gne M712T mouse as a model for human glomerulopathySravan Kakani, Tal Yardeni, Justin Poling, et al.
Human Genetics|February 22, 2017
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiencyJoshi Stephen, Thierry Vilboux, Luhe Mian, et al.
Human Genetics|February 19, 2017
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variantsSeth I Berger, Carla Ciccone, Karen L Simon, et al.
Disease Models & Mechanisms|May 26, 2026
A mouse model of free sialic acid storage disorder: Hypomyelinating leukodystrophy and Purkinje cell degenerationMary E Hackbarth, Mahin S Hossain, Marya S Sabir, et al.
American Journal of Respiratory Cell and Molecular Biology|October 19, 2013
Dysregulation of galectin-3. Implications for Hermansky-Pudlak syndrome pulmonary fibrosisAndrew R Cullinane, Caroline Yeager, Heidi Dorward, et al.
Human Mutation|March 19, 2013
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnosticsDimitre R Simeonov, Xinjing Wang, Chen Wang, et al.
Pageof 13

Showing results (101-110 of 130) with videos related to

Sort By:
Pageof 13
Journal of Inherited Metabolic Disease|October 19, 2013
Non-specific accumulation of glycosphingolipids in GNE myopathyKatherine A Patzel, Tal Yardeni, Erell Le Poëc-Celic, et al.
Blood|July 22, 2004
Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complexBabette Gwynn, Jose A Martina, Juan S Bonifacino, et al.
Molecular Genetics and Metabolism|November 17, 2009
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosisMeral Gunay-Aygun, Maya Tuchman, Esperanza Font-Montgomery, et al.
The Journal of Pediatrics|June 23, 2009
MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert SyndromeMeral Gunay-Aygun, Melissa A Parisi, Dan Doherty, et al.
The American Journal of Pathology|February 11, 2012
The Gne M712T mouse as a model for human glomerulopathySravan Kakani, Tal Yardeni, Justin Poling, et al.
Human Genetics|February 22, 2017
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiencyJoshi Stephen, Thierry Vilboux, Luhe Mian, et al.
Human Genetics|February 19, 2017
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variantsSeth I Berger, Carla Ciccone, Karen L Simon, et al.
Disease Models & Mechanisms|May 26, 2026
A mouse model of free sialic acid storage disorder: Hypomyelinating leukodystrophy and Purkinje cell degenerationMary E Hackbarth, Mahin S Hossain, Marya S Sabir, et al.
American Journal of Respiratory Cell and Molecular Biology|October 19, 2013
Dysregulation of galectin-3. Implications for Hermansky-Pudlak syndrome pulmonary fibrosisAndrew R Cullinane, Caroline Yeager, Heidi Dorward, et al.
Human Mutation|March 19, 2013
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnosticsDimitre R Simeonov, Xinjing Wang, Chen Wang, et al.
Pageof 13