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	1.	Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature. [electronic resource] by Mazurova, Stella Magner, Martin Kucerova-Vidrova, Vendula Vondrackova, Alzbeta Stranecky, Viktor Pristoupilova, Anna Zamecnik, Josef Hansikova, Hana Zeman, Jiri Tesarova, Marketa Honzik, Tomas Producer: 20180419 In: Cardiology in the young vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	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)
	3.	Rare variants in known and novel candidate genes predisposing to statin-associated myopathy. [electronic resource] by Neřoldová, Magdaléna Stránecký, Viktor Hodaňová, Kateřina Hartmannová, Hana Piherová, Lenka Přistoupilová, Anna Mrázová, Lenka Vrablík, Michal Adámková, Věra Hubáček, Jaroslav A Jirsa, Milan Kmoch, Stanislav Producer: 20170809 In: Pharmacogenomics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	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)
	5.	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)
	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.	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)
	8.	Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene. [electronic resource] by Melià, Maria J Kubota, Akatsuki Ortolano, Saida Vílchez, Juan J Gámez, Josep Tanji, Kurenai Bonilla, Eduardo Palenzuela, Lluís Fernández-Cadenas, Israel Pristoupilová, Anna García-Arumí, Elena Andreu, Antoni L Navarro, Carmen Hirano, Michio Martí, Ramon Producer: 20130624 In: Brain : a journal of neurology vol. 136 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	New genes emerging for colorectal cancer predisposition. [electronic resource] by Esteban-Jurado, Clara Garre, Pilar Vila, Maria Lozano, Juan José Pristoupilova, Anna Beltrán, Sergi Abulí, Anna Muñoz, Jenifer Balaguer, Francesc Ocaña, Teresa Castells, Antoni Piqué, Josep M Carracedo, Angel Ruiz-Ponte, Clara Bessa, Xavier Andreu, Montserrat Bujanda, Luis Caldés, Trinidad Castellví-Bel, Sergi Producer: 20150408 In: World journal of gastroenterology vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	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)
	11.	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)
	12.	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)
	13.	Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients. [electronic resource] by García-Cazorla, Angels Oyarzabal, Alfonso Fort, Joana Robles, Concepción Castejón, Esperanza Ruiz-Sala, Pedro Bodoy, Susanna Merinero, Begoña Lopez-Sala, Anna Dopazo, Joaquín Nunes, Virginia Ugarte, Magdalena Artuch, Rafael Palacín, Manuel Rodríguez-Pombo, Pilar Alcaide, Patricia Navarrete, Rosa Sanz, Paloma Font-Llitjós, Mariona Vilaseca, Ma Antonia Ormaizabal, Aida Pristoupilova, Anna Agulló, Sergi Beltran Producer: 20150129 In: Human mutation vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. [electronic resource] by Esteban-Jurado, Clara Vila-Casadesús, Maria Garre, Pilar Lozano, Juan José Pristoupilova, Anna Beltran, Sergi Muñoz, Jenifer Ocaña, Teresa Balaguer, Francesc López-Cerón, Maria Cuatrecasas, Miriam Franch-Expósito, Sebastià Piqué, Josep M Castells, Antoni Carracedo, Angel Ruiz-Ponte, Clara Abulí, Anna Bessa, Xavier Andreu, Montserrat Bujanda, Luis Caldés, Trinidad Castellví-Bel, Sergi Producer: 20150918 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Mutations in ANTXR1 cause GAPO syndrome. [electronic resource] by Stránecký, Viktor Hoischen, Alexander Hartmannová, Hana Zaki, Maha S Chaudhary, Amit Zudaire, Enrique Nosková, Lenka Barešová, Veronika Přistoupilová, Anna Hodaňová, Kateřina Sovová, Jana Hůlková, Helena Piherová, Lenka Hehir-Kwa, Jayne Y de Silva, Deepthi Senanayake, Manouri P Farrag, Sameh Zeman, Jiří Martásek, Pavel Baxová, Alice Afifi, Hanan H St Croix, Brad Brunner, Han G Temtamy, Samia Kmoch, Stanislav Producer: 20130705 In: American journal of human genetics vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	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)
	17.	Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans. [electronic resource] by Gstrein, Thomas Edwards, Andrew Přistoupilová, Anna Leca, Ines Breuss, Martin Pilat-Carotta, Sandra Hansen, Andi H Tripathy, Ratna Traunbauer, Anna K Hochstoeger, Tobias Rosoklija, Gavril Repic, Marco Landler, Lukas Stránecký, Viktor Dürnberger, Gerhard Keane, Thomas M Zuber, Johannes Adams, David J Flint, Jonathan Honzik, Tomas Gut, Marta Beltran, Sergi Mechtler, Karl Sherr, Elliott Kmoch, Stanislav Gut, Ivo Keays, David A Producer: 20190516 In: Nature neuroscience vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Publisher Correction: Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans. [electronic resource] by Gstrein, Thomas Edwards, Andrew Přistoupilová, Anna Leca, Ines Breuss, Martin Pilat-Carotta, Sandra Hansen, Andi H Tripathy, Ratna Traunbauer, Anna K Hochstoeger, Tobias Rosoklija, Gavril Repic, Marco Landler, Lukas Stránecký, Viktor Dürnberger, Gerhard Keane, Thomas M Zuber, Johannes Adams, David J Flint, Jonathan Honzik, Tomas Gut, Marta Beltran, Sergi Mechtler, Karl Sherr, Elliott Kmoch, Stanislav Gut, Ivo Keays, David A Publication details: Nature neuroscience Aug 2018 In: Nature neuroscience vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Noninvasive Immunohistochemical Diagnosis and Novel [electronic resource] by Živná, Martina Kidd, Kendrah Přistoupilová, Anna Barešová, Veronika DeFelice, Mathew Blumenstiel, Brendan Harden, Maegan Conlon, Peter Lavin, Peter Connaughton, Dervla M Hartmannová, Hana Hodaňová, Kateřina Stránecký, Viktor Vrbacká, Alena Vyleťal, Petr Živný, Jan Votruba, Miroslav Sovová, Jana Hůlková, Helena Robins, Victoria Perry, Rebecca Wenzel, Andrea Beck, Bodo B Seeman, Tomáš Viklický, Ondřej Rajnochová-Bloudíčková, Sylvie Papagregoriou, Gregory Deltas, Constantinos C Alper, Seth L Greka, Anna Bleyer, Anthony J Kmoch, Stanislav Producer: 20190910 In: Journal of the American Society of Nephrology : JASN vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	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)

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