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Showing results (401-410 of 483) with videos related to

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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 Neurochemistry|April 11, 2007
Evaluating the suitability of nicotinic acetylcholine receptor antibodies for standard immunodetection proceduresN Moser, N Mechawar, I Jones, 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.
Journal of Breath Research|January 30, 2016
Identification of Pseudomonas aeruginosa and Aspergillus fumigatus mono- and co-cultures based on volatile biomarker combinationsA H Neerincx, B P Geurts, M F J Habets, et al.
Brain : a Journal of Neurology|February 16, 2007
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafnessRosalba Carrozzo, Carlo Dionisi-Vici, Ulrike Steuerwald, et al.
Communications Biology|September 21, 2022
Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type IIJona Merx, Rianne E van Outersterp, Udo F H Engelke, et al.
Acta Neuropathologica Communications|November 21, 2013
Increased mitochondrial activity in a novel IDH1-R132H mutant human oligodendroglioma xenograft model: in situ detection of 2-HG and α-KGAnna C Navis, Simone P Niclou, Fred Fack, et al.
American Journal of Human Genetics|June 19, 2018
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol BiosynthesisDavid Coman, Lisenka E L M Vissers, Lisa G Riley, et al.
Brain : a Journal of Neurology|December 24, 2016
CAD mutations and uridine-responsive epileptic encephalopathyJohannes Koch, Johannes A Mayr, Bader Alhaddad, et al.
Pageof 49

Showing results (401-410 of 483) with videos related to

Sort By:
Pageof 49
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 Neurochemistry|April 11, 2007
Evaluating the suitability of nicotinic acetylcholine receptor antibodies for standard immunodetection proceduresN Moser, N Mechawar, I Jones, 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.
Journal of Breath Research|January 30, 2016
Identification of Pseudomonas aeruginosa and Aspergillus fumigatus mono- and co-cultures based on volatile biomarker combinationsA H Neerincx, B P Geurts, M F J Habets, et al.
Brain : a Journal of Neurology|February 16, 2007
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafnessRosalba Carrozzo, Carlo Dionisi-Vici, Ulrike Steuerwald, et al.
Communications Biology|September 21, 2022
Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type IIJona Merx, Rianne E van Outersterp, Udo F H Engelke, et al.
Acta Neuropathologica Communications|November 21, 2013
Increased mitochondrial activity in a novel IDH1-R132H mutant human oligodendroglioma xenograft model: in situ detection of 2-HG and α-KGAnna C Navis, Simone P Niclou, Fred Fack, et al.
American Journal of Human Genetics|June 19, 2018
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol BiosynthesisDavid Coman, Lisenka E L M Vissers, Lisa G Riley, et al.
Brain : a Journal of Neurology|December 24, 2016
CAD mutations and uridine-responsive epileptic encephalopathyJohannes Koch, Johannes A Mayr, Bader Alhaddad, et al.
Pageof 49