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R Lemke

Showing results (171-180 of 342) with videos related to

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European Journal of Medical Genetics|October 7, 2021
The Angelman Syndrome Online Registry - A multilingual approach to support global researchIlona Krey, Constanze Heine, Marcel Frömming, et al.
Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association|February 26, 2013
Sequence variations in the von Hippel-Lindau tumor suppressor gene in patients with intracranial aneurysmsJan-Helge Klingler, Marie T Krüger, Johannes R Lemke, et al.
Molecular Syndromology|October 27, 2016
Novel <i>KCNQ3</i> Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal SeizuresSnezana Maljevic, Sabina Vejzovic, Matthias K Bernhard, et al.
European Journal of Human Genetics : EJHG|January 5, 2017
Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsyMassimiliano Rossi, Nicolas Chatron, Audrey Labalme, et al.
Science (New York, N.Y.)|March 11, 1994
Regulation of melanin biosynthesis in the human epidermis by tetrahydrobiopterinK U Schallreuter, J M Wood, M R Pittelkow, et al.
Journal of Neurology|September 19, 2013
Novel CACNA1A mutation(s) associated with slow saccade velocitiesStefan Kipfer, Simon Jung, Johannes R Lemke, et al.
Epilepsia|August 19, 2022
Compound-heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathyVincent Strehlow, Claudine Rieubland, Sabina Gallati, et al.
Human Mutation|August 26, 2018
Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsiesStephan Lauxmann, Nienke E Verbeek, Yuanyuan Liu, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|June 9, 2017
Copy number variations in "classical" obesity candidate genes are not frequently associated with severe early-onset obesity in childrenJan Windholz, Peter Kovacs, Marina Schlicke, et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics|January 8, 2022
L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null VariantsIlona Krey, Sarah von Spiczak, Kathrine M Johannesen, et al.
Pageof 35

Showing results (171-180 of 342) with videos related to

Sort By:
Pageof 35
European Journal of Medical Genetics|October 7, 2021
The Angelman Syndrome Online Registry - A multilingual approach to support global researchIlona Krey, Constanze Heine, Marcel Frömming, et al.
Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association|February 26, 2013
Sequence variations in the von Hippel-Lindau tumor suppressor gene in patients with intracranial aneurysmsJan-Helge Klingler, Marie T Krüger, Johannes R Lemke, et al.
Molecular Syndromology|October 27, 2016
Novel <i>KCNQ3</i> Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal SeizuresSnezana Maljevic, Sabina Vejzovic, Matthias K Bernhard, et al.
European Journal of Human Genetics : EJHG|January 5, 2017
Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsyMassimiliano Rossi, Nicolas Chatron, Audrey Labalme, et al.
Science (New York, N.Y.)|March 11, 1994
Regulation of melanin biosynthesis in the human epidermis by tetrahydrobiopterinK U Schallreuter, J M Wood, M R Pittelkow, et al.
Journal of Neurology|September 19, 2013
Novel CACNA1A mutation(s) associated with slow saccade velocitiesStefan Kipfer, Simon Jung, Johannes R Lemke, et al.
Epilepsia|August 19, 2022
Compound-heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathyVincent Strehlow, Claudine Rieubland, Sabina Gallati, et al.
Human Mutation|August 26, 2018
Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsiesStephan Lauxmann, Nienke E Verbeek, Yuanyuan Liu, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|June 9, 2017
Copy number variations in "classical" obesity candidate genes are not frequently associated with severe early-onset obesity in childrenJan Windholz, Peter Kovacs, Marina Schlicke, et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics|January 8, 2022
L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null VariantsIlona Krey, Sarah von Spiczak, Kathrine M Johannesen, et al.
Pageof 35