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 Wevers

Showing results (391-400 of 483) with videos related to

Pageof 49
Sort By:
Journal of Medical Genetics|June 1, 1996
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotypeJ L Keulemans, A J Reuser, M A Kroos, et al.
Annals of Neurology|June 27, 2009
Free sialic acid storage disease without sialuriaFanny Mochel, Bingzhi Yang, Julie Barritault, et al.
Annals of Neurology|October 31, 2012
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsyRita Barone, Chiara Aiello, Valérie Race, et al.
Journal of Inherited Metabolic Disease|May 5, 2011
Nijmegen paediatric CDG rating scale: a novel tool to assess disease progressionSamira Achouitar, Miski Mohamed, Thatjana Gardeitchik, et al.
Annals of Neurology|January 13, 2019
SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulationJoseph P Dewulf, Elsa Wiame, Imen Dorboz, et al.
Journal of the American Society of Nephrology : JASN|January 26, 2007
In vivo degradation of heparan sulfates in the glomerular basement membrane does not result in proteinuriaTessa J M Wijnhoven, Joost F M Lensen, Ronnie G P Wismans, et al.
Pharmacogenomics|September 25, 2015
Systems medicine, personalized health and therapyGérard Siest, Charles Auffray, Naoyuki Taniguchi, et al.
Journal of Inherited Metabolic Disease|June 20, 2020
Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndromePippa Staps, William B Rizzo, Frédéric M Vaz, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 6, 2006
Lysosomal storage diseases in non-immune hydrops fetalis pregnanciesAngelique J A Kooper, Pim M W Janssens, Akosua N J A de Groot, et al.
Biochimica Et Biophysica Acta|March 3, 2011
Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin patternM Mohamed, M Guillard, S B Wortmann, et al.
Pageof 49

Showing results (391-400 of 483) with videos related to

Sort By:
Pageof 49
Journal of Medical Genetics|June 1, 1996
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotypeJ L Keulemans, A J Reuser, M A Kroos, et al.
Annals of Neurology|June 27, 2009
Free sialic acid storage disease without sialuriaFanny Mochel, Bingzhi Yang, Julie Barritault, et al.
Annals of Neurology|October 31, 2012
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsyRita Barone, Chiara Aiello, Valérie Race, et al.
Journal of Inherited Metabolic Disease|May 5, 2011
Nijmegen paediatric CDG rating scale: a novel tool to assess disease progressionSamira Achouitar, Miski Mohamed, Thatjana Gardeitchik, et al.
Annals of Neurology|January 13, 2019
SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulationJoseph P Dewulf, Elsa Wiame, Imen Dorboz, et al.
Journal of the American Society of Nephrology : JASN|January 26, 2007
In vivo degradation of heparan sulfates in the glomerular basement membrane does not result in proteinuriaTessa J M Wijnhoven, Joost F M Lensen, Ronnie G P Wismans, et al.
Pharmacogenomics|September 25, 2015
Systems medicine, personalized health and therapyGérard Siest, Charles Auffray, Naoyuki Taniguchi, et al.
Journal of Inherited Metabolic Disease|June 20, 2020
Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndromePippa Staps, William B Rizzo, Frédéric M Vaz, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 6, 2006
Lysosomal storage diseases in non-immune hydrops fetalis pregnanciesAngelique J A Kooper, Pim M W Janssens, Akosua N J A de Groot, et al.
Biochimica Et Biophysica Acta|March 3, 2011
Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin patternM Mohamed, M Guillard, S B Wortmann, et al.
Pageof 49