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Lynne Rumping

Showing results (1-10 of 13) with videos related to

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The New England Journal of Medicine|September 19, 2019
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLSLynne Rumping, Judith J Jans, Peter M van Hasselt
European Journal of Human Genetics : EJHG|August 30, 2022
"Hypothesis: Patient with possible disturbance in programmed cell death": further insights in pathogenicity and clinical features of Fraser syndromeLynne Rumping, Raoul C M Hennekam, Mariëlle Alders, et al.
Nederlands Tijdschrift Voor Geneeskunde|March 6, 2014
[Hereditary fructose intolerance]Lynne Rumping, Hans R Waterham, Irene Kok, et al.
Journal of Inherited Metabolic Disease|October 12, 2019
Inborn errors of enzymes in glutamate metabolismLynne Rumping, Esmee Vringer, Roderick H J Houwen, et al.
Viruses|October 14, 2011
Seroconversion to HCoV-NL63 in Rhesus MacaquesRonald Dijkman, H Lie Mulder, Lynne Rumping, et al.
American Journal of Medical Genetics. Part A|July 13, 2021
Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variantLynne Rumping, Marja W Wessels, Alex V Postma, et al.
Biochimica Et Biophysica Acta. General Subjects|November 18, 2019
Metabolic fingerprinting reveals extensive consequences of GLS hyperactivityLynne Rumping, Mia L Pras-Raves, Johan Gerrits, et al.
JIMD Reports|May 8, 2023
A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsyLynne Rumping, Petra J W Pouwels, Nicole I Wolf, et al.
JAMA Neurology|December 22, 2018
Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic EncephalopathyLynne Rumping, Benjamin Büttner, Oliver Maier, et al.
Heart Rhythm|May 10, 2023
Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variantMatthew J O'Neill, Suet Nee Chen, Lynne Rumping, et al.
Pageof 2

Showing results (1-10 of 13) with videos related to

Sort By:
Pageof 2
The New England Journal of Medicine|September 19, 2019
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLSLynne Rumping, Judith J Jans, Peter M van Hasselt
European Journal of Human Genetics : EJHG|August 30, 2022
"Hypothesis: Patient with possible disturbance in programmed cell death": further insights in pathogenicity and clinical features of Fraser syndromeLynne Rumping, Raoul C M Hennekam, Mariëlle Alders, et al.
Nederlands Tijdschrift Voor Geneeskunde|March 6, 2014
[Hereditary fructose intolerance]Lynne Rumping, Hans R Waterham, Irene Kok, et al.
Journal of Inherited Metabolic Disease|October 12, 2019
Inborn errors of enzymes in glutamate metabolismLynne Rumping, Esmee Vringer, Roderick H J Houwen, et al.
Viruses|October 14, 2011
Seroconversion to HCoV-NL63 in Rhesus MacaquesRonald Dijkman, H Lie Mulder, Lynne Rumping, et al.
American Journal of Medical Genetics. Part A|July 13, 2021
Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variantLynne Rumping, Marja W Wessels, Alex V Postma, et al.
Biochimica Et Biophysica Acta. General Subjects|November 18, 2019
Metabolic fingerprinting reveals extensive consequences of GLS hyperactivityLynne Rumping, Mia L Pras-Raves, Johan Gerrits, et al.
JIMD Reports|May 8, 2023
A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsyLynne Rumping, Petra J W Pouwels, Nicole I Wolf, et al.
JAMA Neurology|December 22, 2018
Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic EncephalopathyLynne Rumping, Benjamin Büttner, Oliver Maier, et al.
Heart Rhythm|May 10, 2023
Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variantMatthew J O'Neill, Suet Nee Chen, Lynne Rumping, et al.
Pageof 2