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	1.	Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech Gypsy children--frequent and underestimated cause of disability among Czech Gypsies. [electronic resource] by Lassuthova, Petra Sišková, Dana Haberlová, Jana Sakmaryová, Iva Filouš, Aleš Seeman, Pavel Producer: 20140926 In: Orphanet journal of rare diseases vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients. [electronic resource] by Brožková, Dana Šafka Posádka, Jan Laššuthová, Petra Mazanec, Radim Haberlová, Jana Sišková, Dana Sakmaryová, Iva Neupauerová, Jana Seeman, Pavel Producer: 20140528 In: Molecular medicine reports vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Three new PLP1 splicing mutations demonstrate pathogenic and phenotypic diversity of Pelizaeus-Merzbacher disease. [electronic resource] by Laššuthová, Petra Žaliová, Markéta Inoue, Ken Haberlová, Jana Sixtová, Klára Sakmaryová, Iva Paděrová, Kateřina Mazanec, Radim Zámečník, Josef Šišková, Dana Garbern, Jim Seeman, Pavel Producer: 20151105 In: Journal of child neurology vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes. [electronic resource] by Mihaylova, Violeta Müller, Juliane S Vilchez, Juan J Salih, Mustafa A Kabiraj, Mohammad M D'Amico, Adele Bertini, Enrico Wölfle, Joachim Schreiner, Felix Kurlemann, Gerhard Rasic, Vedrana Milic Siskova, Dana Colomer, Jaume Herczegfalvi, Agnes Fabriciova, Katarina Weschke, Bernhard Scola, Rosana Hoellen, Friederike Schara, Ulrike Abicht, Angela Lochmüller, Hanns Producer: 20080501 In: Brain : a journal of neurology vol. 131 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)