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	21.	Molecular diagnostics identifies risks for graft dysfunction despite borderline histologic changes. [electronic resource] by Hrubá, Petra Brabcová, Irena Gueler, Faikah Krejčík, Zdeněk Stránecký, Viktor Svobodová, Eva Malušková, Jana Gwinner, Wilfried Honsová, Eva Lodererová, Alena Oberbauer, Rainer Zachoval, Roman Viklický, Ondřej Producer: 20160713 In: Kidney international vol. 88 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	22.	Sideroblastic anemia associated with multisystem mitochondrial disorders. [electronic resource] by Tesarova, Marketa Vondrackova, Alzbeta Stufkova, Hana Veprekova, Lenka Stranecky, Viktor Berankova, Kamila Hansikova, Hana Magner, Martin Galoova, Natalia Honzik, Tomas Vodickova, Elena Stary, Jan Zeman, Jiri Producer: 20191121 In: Pediatric blood & cancer vol. 66 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	23.	Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing. [electronic resource] by Jedličková, Ivana Přistoupilová, Anna Nosková, Lenka Majer, Filip Stránecký, Viktor Hartmannová, Hana Hodaňová, Kateřina Trešlová, Helena Hýblová, Michaela Solár, Peter Minárik, Gabriel Giertlová, Mária Kmoch, Stanislav Producer: 20210430 In: Molecular genetics & genomic medicine vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	24.	Rotor-type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump. [electronic resource] by Hrebícek, Martin Jirásek, Tomás Hartmannová, Hana Nosková, Lenka Stránecký, Viktor Ivánek, Robert Kmoch, Stanislav Cebecauerová, Dita Vítek, Libor Mikulecký, Miroslav Subhanová, Iva Hozák, Pavel Jirsa, Milan Producer: 20070614 In: Liver international : official journal of the International Association for the Study of the Liver vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	25.	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)
	26.	Molecular patterns of diffuse and nodular parathyroid hyperplasia in long-term hemodialysis. [electronic resource] by Týcová, Irena Sulková, Sylvie Dusilová Štěpánková, Jitka Krejčík, Zdeněk Merkerová, Michaela Dostálová Stránecký, Viktor Hrubá, Petra Girmanová, Eva Černoch, Marek Lipár, Květoslav Marada, Tomáš Povýšil, Ctibor Viklický, Ondřej Producer: 20170623 In: American journal of physiology. Endocrinology and metabolism vol. 311 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	27.	Multiplex PCR and NGS-based identification of mRNA splicing variants: Analysis of BRCA1 splicing pattern as a model. [electronic resource] by Hojny, Jan Zemankova, Petra Lhota, Filip Sevcik, Jan Stranecky, Viktor Hartmannova, Hana Hodanova, Katerina Mestak, Ondrej Pavlista, David Janatova, Marketa Soukupova, Jana Vocka, Michal Kleibl, Zdenek Kleiblova, Petra Producer: 20171212 In: Gene vol. 637 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	28.	Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency. [electronic resource] by Mazurova, Stella Tesarova, Marketa Zeman, Jiri Stranecky, Viktor Hansikova, Hana Baxova, Alica Giertlova, Maria Lastuvkova, Jana Chovanova, Vanda Rusnakova, Simona Knapkova, Maria Minarik, Gabriel Honzik, Tomas Magner, Martin Producer: 20210315 In: The Journal of dermatology vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	29.	Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3. [electronic resource] by Liskova, Petra Evans, Cerys J Davidson, Alice E Zaliova, Marketa Dudakova, Lubica Trkova, Marie Stranecky, Viktor Carnt, Nicole Plagnol, Vincent Vincent, Andrea L Tuft, Stephen J Hardcastle, Alison J Producer: 20170726 In: European journal of human genetics : EJHG vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	30.	Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene. [electronic resource] by Hartmannova, Hana Kubanek, Milos Sramko, Marek Piherova, Lenka Noskova, Lenka Hodanova, Katerina Stranecky, Viktor Pristoupilova, Anna Sovova, Jana Marek, Tomas Maluskova, Jana Ridzon, Petr Kautzner, Josef Hulkova, Helena Kmoch, Stanislav Producer: 20140813 In: Circulation. Cardiovascular genetics vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	31.	Molecular Patterns Discriminate Accommodation and Subclinical Antibody-mediated Rejection in Kidney Transplantation. [electronic resource] by Hruba, Petra Krejcik, Zdenek Stranecky, Viktor Maluskova, Jana Slatinska, Janka Gueler, Faikah Gwinner, Wilfried Bräsen, Jan Hinrich Wohlfahrtova, Mariana Parikova, Alena Osickova, Klara Fronek, Jiri Seda, Ondrej Prefertusova, Lucie Honsova, Eva Viklicky, Ondrej Producer: 20191113 In: Transplantation vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	32.	Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a cathepsin D variant p.A58V. [electronic resource] by Ehling, Rainer Nosková, Lenka Stránecký, Viktor Hartmannová, Hana Přistoupilová, Anna Hodaňová, Kateřina Benke, Thomas Kovacs, Gabor G Ströbel, Thomas Niedermüller, Ulrike Wagner, Michaela Nachbauer, Wolfgang Janecke, Andreas Budka, Herbert Boesch, Sylvia Kmoch, Stanislav Producer: 20131203 In: Journal of the neurological sciences vol. 326 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	33.	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)
	34.	Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes. [electronic resource] by Soukupova, Jana Zemankova, Petra Lhotova, Klara Janatova, Marketa Borecka, Marianna Stolarova, Lenka Lhota, Filip Foretova, Lenka Machackova, Eva Stranecky, Viktor Tavandzis, Spiros Kleiblova, Petra Vocka, Michal Hartmannova, Hana Hodanova, Katerina Kmoch, Stanislav Kleibl, Zdenek Producer: 20180727 In: PloS one vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	35.	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)
	36.	Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency. [electronic resource] by Cízková, Alena Stránecký, Viktor Ivánek, Robert Hartmannová, Hana Nosková, Lenka Piherová, Lenka Tesarová, Markéta Hansíková, Hana Honzík, Tomás Zeman, Jirí Divina, Petr Potocká, Andrea Paul, Jan Sperl, Wolfgang Mayr, Johannes A Seneca, Sara Houstĕk, Josef Kmoch, Stanislav Producer: 20080403 In: BMC genomics vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	37.	Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation. [electronic resource] by Park, Eon Joo Grabińska, Kariona A Guan, Ziqiang Stránecký, Viktor Hartmannová, Hana Hodaňová, Kateřina Barešová, Veronika Sovová, Jana Jozsef, Levente Ondrušková, Nina Hansíková, Hana Honzík, Tomáš Zeman, Jiří Hůlková, Helena Wen, Rong Kmoch, Stanislav Sessa, William C Producer: 20150518 In: Cell metabolism vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	38.	Contribution of Massive Parallel Sequencing to Diagnosis of Hereditary Ovarian Cancer in the Czech Republic. [electronic resource] by Soukupová, Jana Lhotová, Klára Zemánková, Petra Vočka, Michal Janatová, Markéta Stolařová, Lenka Borecká, Marianna Kleiblová, Petra Macháčková, Eva Foretová, Lenka Koudová, Monika Lhota, Filip Tavandzis, Spiros Zikán, Michal Stránecký, Viktor Veselá, Kamila Panczak, Aleš Kotlas, Jaroslav Kleibl, Zdeněk Producer: 20200107 In: Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	39.	Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4. [electronic resource] by Liskova, Petra Dudakova, Lubica Evans, Cerys J Rojas Lopez, Karla E Pontikos, Nikolas Athanasiou, Dimitra Jama, Hodan Sach, Josef Skalicka, Pavlina Stranecky, Viktor Kmoch, Stanislav Thaung, Caroline Filipec, Martin Cheetham, Michael E Davidson, Alice E Tuft, Stephen J Hardcastle, Alison J Producer: 20181211 In: American journal of human genetics vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	40.	Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. [electronic resource] by Nosková, Lenka Stránecký, Viktor Hartmannová, Hana Přistoupilová, Anna Barešová, Veronika Ivánek, Robert Hůlková, Helena Jahnová, Helena van der Zee, Julie Staropoli, John F Sims, Katherine B Tyynelä, Jaana Van Broeckhoven, Christine Nijssen, Peter C G Mole, Sara E Elleder, Milan Kmoch, Stanislav Producer: 20111010 In: American journal of human genetics vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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