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	1.	Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis. [electronic resource] by Kostalova, Eva Pavelka, Karel Vlaskova, Hana Musalkova, Dita Stiburkova, Blanka Producer: 20151005 In: Clinica chimica acta; international journal of clinical chemistry vol. 440 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Identification of novel informative loci for DNA-based X-inactivation analysis. [electronic resource] by Musalkova, Dita Minks, Jakub Storkanova, Gabriela Dvorakova, Lenka Hrebicek, Martin Producer: 20150909 In: Blood cells, molecules & diseases vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	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)
	4.	Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency. [electronic resource] by Musalkova, Dita Sticova, Eva Reboun, Martin Sokolova, Jitka Krijt, Jakub Honzikova, Jitka Gurka, Jiri Neroldova, Magdalena Honzik, Tomas Zeman, Jiri Jirsa, Milan Dvorakova, Lenka Hrebicek, Martin Producer: 20180619 In: Virchows Archiv : an international journal of pathology vol. 472 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females. [electronic resource] by Zikánová, Marie Wahezi, Dawn Hay, Arielle Stiburková, Blanka Pitts, Charles Mušálková, Dita Škopová, Václava Barešová, Veronika Soucková, Olga Hodanová, Katerina Živná, Martina Stránecký, Viktor Hartmannová, Hana Hnízda, Ales Bleyer, Anthony J Kmoch, Stanislav Producer: 20190528 In: Rheumatology (Oxford, England) vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing. [electronic resource] by Jedličková, Ivana Cadieux-Dion, Maxime Přistoupilová, Anna Stránecký, Viktor Hartmannová, Hana Hodaňová, Kateřina Barešová, Veronika Hůlková, Helena Sikora, Jakub Nosková, Lenka Mušálková, Dita Vyleťal, Petr Sovová, Jana Cossette, Patrick Andermann, Eva Andermann, Frederick Kmoch, Stanislav Producer: 20210527 In: European journal of human genetics : EJHG vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations. [electronic resource] by Musalkova, Dita Majer, Filip Kuchar, Ladislav Luksan, Ondrej Asfaw, Befekadu Vlaskova, Hana Storkanova, Gabriela Reboun, Martin Poupetova, Helena Jahnova, Helena Hulkova, Helena Ledvinova, Jana Dvorakova, Lenka Sikora, Jakub Jirsa, Milan Vanier, Marie T Hrebicek, Martin Producer: 20210618 In: Orphanet journal of rare diseases vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Rare copy number variation in extremely impulsively violent males. [electronic resource] by Vevera, Jan Zarrei, Mehdi Hartmannová, Hana Jedličková, Ivana Mušálková, Dita Přistoupilová, Anna Oliveriusová, Petra Trešlová, Helena Nosková, Lenka Hodaňová, Kateřina Stránecký, Viktor Jiřička, Václav Preiss, Marek Příhodová, Kateřina Šaligová, Jana Wei, John Woodbury-Smith, Marc Bleyer, Anthony J Scherer, Stephen W Kmoch, Stanislav Producer: 20200109 In: Genes, brain, and behavior vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)