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Ron A Wevers

Showing results (181-190 of 266) with videos related to

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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.
American Journal of Human Genetics|August 4, 2016
Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in ManKarin Tuschl, Peter T Clayton, Sidney M Gospe, 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.
Human Molecular Genetics|April 12, 2012
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencingSharita Timal, Alexander Hoischen, Ludwig Lehle, et al.
American Journal of Human Genetics|February 21, 2012
Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in manKarin Tuschl, Peter T Clayton, Sidney M Gospe, et al.
Journal of Medical Genetics|July 17, 2023
Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropeniaNadra Samra, Nicolette S Jansen, Ilham Morani, et al.
Pageof 27

Showing results (181-190 of 266) with videos related to

Sort By:
Pageof 27
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.
American Journal of Human Genetics|August 4, 2016
Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in ManKarin Tuschl, Peter T Clayton, Sidney M Gospe, 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.
Human Molecular Genetics|April 12, 2012
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencingSharita Timal, Alexander Hoischen, Ludwig Lehle, et al.
American Journal of Human Genetics|February 21, 2012
Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in manKarin Tuschl, Peter T Clayton, Sidney M Gospe, et al.
Journal of Medical Genetics|July 17, 2023
Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropeniaNadra Samra, Nicolette S Jansen, Ilham Morani, et al.
Pageof 27