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	21.	New polymorphic sites within ornithine transcarbamylase gene: population genetics studies and implications for diagnosis. [electronic resource] by Azevedo, Luísa Stolnaja, Larisa Tietzeova, Evzenie Hrebicek, Martin Hruba, Eva Vilarinho, Laura Amorim, António Dvorakova, Lenka Producer: 20030508 In: Molecular genetics and metabolism vol. 78 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	22.	FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism. [electronic resource] by Vazna, Alzbeta Musova, Zuzana Vlckova, Marketa Novotna, Dhahuse Dvorakova, Lenka Hrdlicka, Michal Havlovicova, Marketa Sedlacek, Zdenek Producer: 20100812 In: American journal of medical genetics. Part A vol. 152A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	23.	Genetic and clinical features of patients with Gaucher disease in Hungary. [electronic resource] by Erdos, Melinda Hodanova, Katerina Taskó, Szilvia Palicz, Anita Stolnaja, Larisa Dvorakova, Lenka Hrebicek, Martin Maródi, László Producer: 20070926 In: Blood cells, molecules & diseases vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	24.	Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency. [electronic resource] by Elleder, Milan Dvoráková, Lenka Stolnaja, Larisa Vlásková, Hana Hůlková, Helena Druga, Rastislav Poupetová, Helena Kostálová, Eva Mikulástík, Josef Producer: 20081014 In: Acta neuropathologica vol. 116 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	25.	Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy. [electronic resource] by Amorosi, Cyntia Anabel Treslova, Helena Dodelson de Kremer, Raquel Coll, María José Dvoráková, Lenka Oller Ramírez, Ana María Producer: 20110506 In: Human genetics vol. 127 Availability: No items available. Save to lists Add to cart (remove)
	26.	Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy. [electronic resource] by Amorosi, Cyntia Anabel Treslova, Helena Dodelson de Kremer, Raquel Coll, María José Dvoráková, Lenka Oller Ramírez, Ana María Producer: 20110506 In: Human genetics vol. 127 Availability: No items available. Save to lists Add to cart (remove)
	27.	Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy. [electronic resource] by Amorosi, Cyntia Anabel Treslova, Helena Dodelson de Kremer, Raquel Coll, María José Dvoráková, Lenka Oller Ramírez, Ana María Producer: 20110506 In: Human genetics vol. 127 Availability: No items available. Save to lists Add to cart (remove)
	28.	Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency. [electronic resource] by Luksan, Ondrej Jirsa, Milan Eberova, Jitka Minks, Jakub Treslova, Helena Bouckova, Michaela Storkanova, Gabriela Vlaskova, Hana Hrebicek, Martin Dvorakova, Lenka Producer: 20100730 In: Human mutation vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	29.	Investigation of substituted 6-aminohexanoates as skin penetration enhancers. [electronic resource] by Brychtova, Katerina Dvorakova, Lenka Opatrilova, Radka Raich, Ivan Kacerova, Sandra Placek, Lukas Kalinowski, Danuta S Richardson, Des R Jampilek, Josef Producer: 20120508 In: Bioorganic & medicinal chemistry vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	30.	Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency. [electronic resource] by Krijt, Jakub Sokolová, Jitka Ješina, Pavel Dvořáková, Lenka Řeboun, Martin Brennerová, Katarína Mistrík, Martin Zeman, Jiří Honzík, Tomáš Kožich, Viktor Producer: 20170731 In: Clinical chemistry and laboratory medicine vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	31.	Indel in the FIC1/ATP8B1 gene-a novel rare type of mutation associated with benign recurrent intrahepatic cholestasis. [electronic resource] by Jirsa, Milan Cebecauerova, Dita Budisova, Lucie Chuzhanova, Nadia Hrebicek, Martin Dvorakova, Lenka Vitek, Libor Brodanova, Marie Hulek, Petr Taimr, Pavel Publication details: Hepatology research : the official journal of the Japan Society of Hepatology Sep 2004 In: Hepatology research : the official journal of the Japan Society of Hepatology vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	32.	Investigating the activity of 2-substituted alkyl-6-(2,5-dioxopyrrolidin-1-yl)hexanoates as skin penetration enhancers. [electronic resource] by Brychtova, Katerina Opatrilova, Radka Raich, Ivan Kalinowski, Danuta S Dvorakova, Lenka Placek, Lukas Csollei, Jozef Richardson, Des R Jampilek, Josef Producer: 20110308 In: Bioorganic & medicinal chemistry vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	33.	Recurrence of Fabry disease as a result of paternal germline mosaicism for alpha-galactosidase a gene mutation. [electronic resource] by Dobrovolný, Robert Dvoráková, Lenka Ledvinová, Jana Magage, Sudheera Bultas, Jan Lubanda, Jean C Poupetová, Helena Elleder, Milan Karetová, Debora Hrebícek, Martin Producer: 20050509 In: American journal of medical genetics. Part A vol. 134A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	34.	HGSNAT has a TATA-less promoter with multiple starts of transcription. [electronic resource] by Richtrova, Eva Mrazova, Lenka S Musalkova, Dita Luksan, Ondrej Stolnaya, Larisa Minks, Jakub Lukas, Jan Dvorakova, Lenka Jirsa, Milan Hrebicek, Martin Producer: 20170206 In: Gene vol. 592 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	35.	Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I. [electronic resource] by Kasper, David C Iqbal, Furhan Dvorakova, Lenka Zeman, Jiri Magner, Martin Bodamer, Olaf Pollak, Arnold Herkner, Kurt R Item, Chike B Producer: 20100415 In: Clinica chimica acta; international journal of clinical chemistry vol. 411 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	36.	Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population. [electronic resource] by Dobrovolny, Robert Dvorakova, Lenka Ledvinova, Jana Magage, Sudheera Bultas, Jan Lubanda, Jean C Elleder, Milan Karetova, Debora Pavlikova, Marketa Hrebicek, Martin Producer: 20051214 In: Journal of molecular medicine (Berlin, Germany) vol. 83 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	37.	Distribution of CFTR mutations in Eastern Hungarians: relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis. [electronic resource] by Ivady, Gergely Madar, Laszlo Nagy, Bela Gonczi, Ferenc Ajzner, Eva Dzsudzsak, Erika Dvořáková, Lenka Gombos, Eva Kappelmayer, Janos Macek, Milan Balogh, Istvan Producer: 20110919 In: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	38.	The coincidence of IgA nephropathy and Fabry disease. [electronic resource] by Maixnerová, Dita Tesař, Vladimír Ryšavá, Romana Reiterová, Jana Poupětová, Helena Dvořáková, Lenka Goláň, Lubor Neprašová, Michaela Kidorová, Jana Merta, Miroslav Honsová, Eva Producer: 20130711 In: BMC nephrology vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	39.	Glucocerebrosidase gene has an alternative upstream promoter, which has features and expression characteristic of housekeeping genes. [electronic resource] by Svobodová, Eva Mrázová, Lenka Lukšan, Ondřej Elstein, Deborah Zimran, Ari Stolnaya, Larisa Minks, Jakub Eberová, Jitka Dvořáková, Lenka Jirsa, Milan Hřebíček, Martin Producer: 20110826 In: Blood cells, molecules & diseases vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	40.	Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics. [electronic resource] by Majer, Filip Pelak, Ondrej Kalina, Tomas Vlaskova, Hana Dvorakova, Lenka Honzik, Tomas Palecek, Tomas Kuchynka, Petr Masek, Martin Zeman, Jiri Elleder, Milan Sikora, Jakub Producer: 20140909 In: Journal of inherited metabolic disease vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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