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Journal of Applied Genetics|July 30, 2009
Screening of the 17p11.2--p12 region in a large cohort of patients with Charcot-Marie-Tooth (CMT) disease or hereditary neuropathy with liability to pressure palsies (HNPP)D Kabzinska, J Pierscinska, A KochanskiClinical Neuropathology|February 9, 2008
Charcot-Marie-Tooth disorders with an autosomal recessive mode of inheritanceD Kabzinska, I Hausmanowa-Petrusewicz, A KochanskiJournal of Neonatal-Perinatal Medicine|November 20, 2013
The impact of assisted reproductive technologies on the genome and epigenome of the newbornA Kochanski, T A Merritt, J Gadzinowski, et al.Neuromuscular Disorders : NMD|March 24, 2004
A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelinA Kochanski, H Drac, D Kabzińska, et al.Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|October 17, 2006
Early onset Charcot-Marie-Tooth disease caused by a homozygous Leu239Phe mutation in the GDAP1 geneD Kabzinska, H Drac, K Rowinska-Marcinska, et al.Neurology|June 9, 2004
A novel MPZ gene mutation in congenital neuropathy with hypomyelinationA Kochanski, H Drac, D Kabzińska, et al.Neurology|March 15, 2006
Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX geneD Kabzinska, H Drac, D L Sherman, et al.Neurology|February 9, 2005
Mild early onset axonal Charcot-Marie-Tooth disease not linked to other axonal Charcot-Marie-Tooth lociA Kochanski, M Kennerson, M Kawulak, et al.Pageof 1