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Angela Abicht

Showing results (41-50 of 102) with videos related to

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Muscle & Nerve|July 30, 2013
Novel ETFDH mutation and imaging findings in an adult with glutaric aciduria type IIAngela Rosenbohm, Sigurd D Süssmuth, Jan Kassubek, et al.
Genes|January 26, 2024
Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35)Alexander German, Jelena Jukic, Andreas Laner, et al.
European Journal of Human Genetics : EJHG|May 15, 2023
Diagnostic yield and clinical relevance of expanded germline genetic testing for nearly 7000 suspected HBOC patientsJan Henkel, Andreas Laner, Melanie Locher, et al.
Brain : a Journal of Neurology|April 19, 2002
A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndromeAngela Abicht, Rolf Stucka, Carolin Schmidt, et al.
Neuromuscular Disorders : NMD|March 1, 2003
Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferaseCarolin Schmidt, Angela Abicht, Klaus Krampfl, et al.
Genes|March 28, 2024
Optical Genome Mapping as a Potential Routine Clinical Diagnostic MethodHayk Barseghyan, Doris Eisenreich, Evgenia Lindt, et al.
Neuromuscular Disorders : NMD|August 24, 2010
Clinical and neuropathological findings in patients with TACO1 mutationsJürgen Seeger, Bertold Schrank, Angela Pyle, 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.
Frontiers in Neuroscience|September 26, 2019
A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic PainJianying Huang, Mark Estacion, Peng Zhao, et al.
Molecular and Cellular Probes|September 2, 2015
Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 geneCornelia Köhler, Christoph Heyer, Sabine Hoffjan, et al.
Pageof 11

Showing results (41-50 of 102) with videos related to

Sort By:
Pageof 11
Muscle & Nerve|July 30, 2013
Novel ETFDH mutation and imaging findings in an adult with glutaric aciduria type IIAngela Rosenbohm, Sigurd D Süssmuth, Jan Kassubek, et al.
Genes|January 26, 2024
Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35)Alexander German, Jelena Jukic, Andreas Laner, et al.
European Journal of Human Genetics : EJHG|May 15, 2023
Diagnostic yield and clinical relevance of expanded germline genetic testing for nearly 7000 suspected HBOC patientsJan Henkel, Andreas Laner, Melanie Locher, et al.
Brain : a Journal of Neurology|April 19, 2002
A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndromeAngela Abicht, Rolf Stucka, Carolin Schmidt, et al.
Neuromuscular Disorders : NMD|March 1, 2003
Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferaseCarolin Schmidt, Angela Abicht, Klaus Krampfl, et al.
Genes|March 28, 2024
Optical Genome Mapping as a Potential Routine Clinical Diagnostic MethodHayk Barseghyan, Doris Eisenreich, Evgenia Lindt, et al.
Neuromuscular Disorders : NMD|August 24, 2010
Clinical and neuropathological findings in patients with TACO1 mutationsJürgen Seeger, Bertold Schrank, Angela Pyle, 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.
Frontiers in Neuroscience|September 26, 2019
A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic PainJianying Huang, Mark Estacion, Peng Zhao, et al.
Molecular and Cellular Probes|September 2, 2015
Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 geneCornelia Köhler, Christoph Heyer, Sabine Hoffjan, et al.
Pageof 11