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Human Mutation|December 6, 2008
Simultaneous mutation and copy number variation (CNV) detection by multiplex PCR-based GS-FLX sequencingDirk Goossens, Lotte N Moens, Eva Nelis, et al.American Journal of Human Genetics|September 26, 2003
Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10Kristien Verhoeven, Peter De Jonghe, Tom Van de Putte, et al.Neuromuscular Disorders : NMD|December 24, 2005
Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IVNathalie Verpoorten, Kristl G Claeys, Liesbet Deprez, et al.Brain : a Journal of Neurology|October 8, 2004
Clinicopathological and genetic study of early-onset demyelinating neuropathyYesim Parman, Esra Battaloglu, Ibrahim Baris, et al.Neuromuscular Disorders : NMD|June 26, 2007
Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN)Olga Koop, Anja Schirmacher, Eva Nelis, et al.Brain : a Journal of Neurology|June 9, 2009
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathyKristl G Claeys, Stephan Züchner, Marina Kennerson, et al.Annals of Neurology|May 4, 2004
SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerveCraig L Bennett, Andrew J Shirk, Huy M Huynh, et al.Archives of Neurology|May 16, 2007
Hereditary spastic paraplegia 3A associated with axonal neuropathyNeviana Ivanova, Kristl G Claeys, Tine Deconinck, et al.Brain : a Journal of Neurology|March 8, 2008
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation studyInes Dierick, Jonathan Baets, Joy Irobi, et al.Nature Genetics|September 28, 2005
Mutations in SEPT9 cause hereditary neuralgic amyotrophyGregor Kuhlenbäumer, Mark C Hannibal, Eva Nelis, et al.Pageof 3