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	41.	Investigation of new acyloxy derivatives of cholic acid and their esters as drug absorption modifiers. [electronic resource] by Mrózek, Lech Dvořáková, Lenka Mandelová, Zuzana Rárová, Lucie Řezáčová, Anna Plaček, Lukáš Opatřilová, Radka Dohnal, Jiří Paleta, Oldřich Král, Vladimír Drašar, Pavel Jampílek, Josef Producer: 20111115 In: Steroids vol. 76 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	42.	X-linked adrenoleukodystrophy: molecular and functional analysis of the ABCD1 gene in Argentinean patients. [electronic resource] by Amorosi, Cyntia Anabel Myskóva, Helena Monti, Mariela Roxana Argaraña, Carlos Enrique Morita, Masashi Kemp, Stephan Dodelson de Kremer, Raquel Dvoráková, Lenka Oller de Ramírez, Ana María Producer: 20130627 In: PloS one vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	43.	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)
	44.	Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. [electronic resource] by Kousi, Maria Siintola, Eija Dvorakova, Lenka Vlaskova, Hana Turnbull, Julie Topcu, Meral Yuksel, Deniz Gokben, Sarenur Minassian, Berge A Elleder, Milan Mole, Sara E Lehesjoki, Anna-Elina Producer: 20090527 In: Brain : a journal of neurology vol. 132 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	45.	Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein. [electronic resource] by Vazna, Alzbeta Beesley, Clare Berna, Linda Stolnaja, Larisa Myskova, Helena Bouckova, Michaela Vlaskova, Hana Poupetova, Helena Zeman, Jiri Magner, Martin Hlavata, Anna Winchester, Bryan Hrebicek, Martin Dvorakova, Lenka Producer: 20090618 In: American journal of medical genetics. Part A vol. 149A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	46.	Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families. [electronic resource] by Mouchegh, Katharina Zikánová, Marie Hoffmann, Georg F Kretzschmar, Benno Kühn, Thomas Mildenberger, Eva Stoltenburg-Didinger, Gisela Krijt, Jakub Dvoráková, Lenka Honzík, Tomás Zeman, Jiri Kmoch, Stanislav Rossi, Rainer Producer: 20070125 In: The Journal of pediatrics vol. 150 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	47.	LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected? [electronic resource] by Majer, Filip Piherova, Lenka Reboun, Martin Stara, Veronika Pelak, Ondrej Norambuena, Patricia Stranecky, Viktor Krebsova, Alice Vlaskova, Hana Dvorakova, Lenka Kmoch, Stanislav Kalina, Tomas Kubanek, Milos Sikora, Jakub Producer: 20190925 In: American journal of medical genetics. Part A vol. 176 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	48.	Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA. [electronic resource] by Krulišová, Veronika Balaščaková, Miroslava Skalická, Veronika Piskáčková, Tereza Holubová, Andrea Paděrová, Jana Křenková, Petra Dvořáková, Lenka Zemková, Dana Kračmar, Petr Chovancová, Blanka Vávrová, Věra Stambergová, Alexandra Votava, Felix Macek, Milan Producer: 20121204 In: European journal of pediatrics vol. 171 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	49.	Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient. [electronic resource] by Majer, Filip Kousal, Bohdan Dusek, Petr Piherova, Lenka Reboun, Martin Mihalova, Romana Gurka, Jiri Krebsova, Alice Vlaskova, Hana Dvorakova, Lenka Krihova, Jana Liskova, Petra Kmoch, Stanislav Kalina, Tomas Kubanek, Milos Sikora, Jakub Producer: 20201228 In: American journal of medical genetics. Part A vol. 182 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	50.	Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations. [electronic resource] by Kuchar, Ladislav Ledvinová, Jana Hrebícek, Martin Mysková, Helena Dvoráková, Lenka Berná, Linda Chrastina, Petr Asfaw, Befekadu Elleder, Milan Petermöller, Margret Mayrhofer, Heidi Staudt, Martin Krägeloh-Mann, Ingeborg Paton, Barbara C Harzer, Klaus Producer: 20090617 In: American journal of medical genetics. Part A vol. 149A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	51.	Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes. [electronic resource] by Sedivá, Anna Smith, C I Edvard Asplund, A Charlotta Hadac, Jan Janda, Ales Zeman, Jirí Hansíková, Hana Dvoráková, Lenka Mrázová, Lenka Velbri, Sirje Koehler, Carla Roesch, Karin Sullivan, Kathleen E Futatani, Takeshi Ochs, Hans D Producer: 20080226 In: Journal of clinical immunology vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	52.	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)
	53.	Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations. [electronic resource] by Křenková, Petra Piskáčková, Tereza Holubová, Andrea Balaščaková, Miroslava Krulišová, Veronika Čamajová, Jana Turnovec, Marek Libik, Malgorzata Norambuena, Patricia Štambergová, Alexandra Dvořáková, Lenka Skalická, Veronika Bartošová, Jana Kučerová, Tereza Fila, Libor Zemková, Dana Vávrová, Věra Koudová, Monika Macek, Milan Krebsová, Alice Macek, Milan Producer: 20131230 In: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	54.	Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis. [electronic resource] by Fietz, Michael AlSayed, Moeenaldeen Burke, Derek Cohen-Pfeffer, Jessica Cooper, Jonathan D Dvořáková, Lenka Giugliani, Roberto Izzo, Emanuela Jahnová, Helena Lukacs, Zoltan Mole, Sara E Noher de Halac, Ines Pearce, David A Poupetova, Helena Schulz, Angela Specchio, Nicola Xin, Winnie Miller, Nicole Producer: 20171207 In: Molecular genetics and metabolism vol. 119 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)