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	1.	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)
	2.	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)
	3.	Teenage-onset progressive myoclonic epilepsy due to a familial [electronic resource] by van den Ameele, Jelle Jedlickova, Ivana Pristoupilova, Anna Sieben, Anne Van Mossevelde, Sara Ceuterick-de Groote, Chantal Hůlková, Helena Matej, Radoslav Meurs, Alfred Van Broeckhoven, Christine Berkovic, Samuel F Santens, Patrick Kmoch, Stanislav Dermaut, Bart Producer: 20190722 In: Neurology vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	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)
	5.	Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease). [electronic resource] by Berkovic, Samuel F Staropoli, John F Carpenter, Stirling Oliver, Karen L Kmoch, Stanislav Anderson, Glenn W Damiano, John A Hildebrand, Michael S Sims, Katherine B Cotman, Susan L Bahlo, Melanie Smith, Katherine R Cadieux-Dion, Maxime Cossette, Patrick Jedličková, Ivana Přistoupilová, Anna Mole, Sara E Producer: 20170601 In: Neurology vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6. [electronic resource] by Hartmannová, Hana Piherová, Lenka Tauchmannová, Kateřina Kidd, Kendrah Acott, Philip D Crocker, John F S Oussedik, Youcef Mallet, Marcel Hodaňová, Kateřina Stránecký, Viktor Přistoupilová, Anna Barešová, Veronika Jedličková, Ivana Živná, Martina Sovová, Jana Hůlková, Helena Robins, Vicki Vrbacký, Marek Pecina, Petr Kaplanová, Vilma Houštěk, Josef Mráček, Tomáš Thibeault, Yves Bleyer, Anthony J Kmoch, Stanislav Producer: 20170720 In: Human molecular genetics vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia. [electronic resource] by Bolar, Nikhita Ajit Golzio, Christelle Živná, Martina Hayot, Gaëlle Van Hemelrijk, Christine Schepers, Dorien Vandeweyer, Geert Hoischen, Alexander Huyghe, Jeroen R Raes, Ann Matthys, Erve Sys, Emiel Azou, Myriam Gubler, Marie-Claire Praet, Marleen Van Camp, Guy McFadden, Kelsey Pediaditakis, Igor Přistoupilová, Anna Hodaňová, Kateřina Vyleťal, Petr Hartmannová, Hana Stránecký, Viktor Hůlková, Helena Barešová, Veronika Jedličková, Ivana Sovová, Jana Hnízda, Aleš Kidd, Kendrah Bleyer, Anthony J Spong, Richard S Vande Walle, Johan Mortier, Geert Brunner, Han Van Laer, Lut Kmoch, Stanislav Katsanis, Nicholas Loeys, Bart L Producer: 20170519 In: American journal of human genetics vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)