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	1.	Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots. [electronic resource] by Zikanova, Marie Krijt, Jakub Skopova, Vaclava Krijt, Matyas Baresova, Veronika Kmoch, Stanislav Producer: 20150908 In: Clinical biochemistry vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	CRISPR-Cas9 induced mutations along de novo purine synthesis in HeLa cells result in accumulation of individual enzyme substrates and affect purinosome formation. [electronic resource] by Baresova, Veronika Krijt, Matyas Skopova, Vaclava Souckova, Olga Kmoch, Stanislav Zikanova, Marie Producer: 20171120 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)
	3.	Increased level of cytokines and matrix metalloproteinases in osteoarthritic subchondral bone. [electronic resource] by Hulejová, Hana Baresová, Veronika Klézl, Zdenek Polanská, Markéta Adam, Milan Senolt, Ladislav Producer: 20071108 In: Cytokine vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Study of purinosome assembly in cell-based model systems with de novo purine synthesis and salvage pathway deficiencies. [electronic resource] by Baresova, Veronika Skopova, Vaclava Souckova, Olga Krijt, Matyas Kmoch, Stanislav Zikanova, Marie Producer: 20190115 In: PloS one vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency. [electronic resource] by Baresova, Veronika Skopova, Vaclava Sikora, Jakub Patterson, David Sovova, Jana Zikanova, Marie Kmoch, Stanislav Producer: 20121119 In: Human molecular genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	The CRISPR-Cas9 crADSL HeLa transcriptome: A first step in establishing a model for ADSL deficiency and SAICAR accumulation. [electronic resource] by Mazzarino, Randall C Baresova, Veronika Zikánová, Marie Duval, Nathan Wilkinson, Terry G Patterson, David Vacano, Guido N Publication details: Molecular genetics and metabolism reports Dec 2019 In: Molecular genetics and metabolism reports vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Mass spectrometric analysis of purine de novo biosynthesis intermediates. [electronic resource] by Mádrová, Lucie Krijt, Matyáš Barešová, Veronika Václavík, Jan Friedecký, David Dobešová, Dana Součková, Olga Škopová, Václava Adam, Tomáš Zikánová, Marie Producer: 20190507 In: PloS one vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Genetic and metabolomic analysis of AdeD and AdeI mutants of de novo purine biosynthesis: cellular models of de novo purine biosynthesis deficiency disorders. [electronic resource] by Duval, Nathan Luhrs, Kyleen Wilkinson, Terry G Baresova, Veronika Skopova, Vaclava Kmoch, Stanislav Vacano, Guido N Zikanova, Marie Patterson, David Producer: 20130730 In: Molecular genetics and metabolism vol. 108 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: a cellular model of adenylosuccinate lyase deficiency. [electronic resource] by Vliet, Lydia K Wilkinson, Terry G Duval, Nathan Vacano, Guido Graham, Christine Zikánová, Marie Skopova, Vaclava Baresova, Veronika Hnízda, Aleš Kmoch, Stanislav Patterson, David Producer: 20110425 In: Molecular genetics and metabolism vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	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)
	11.	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)
	12.	PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome. [electronic resource] by Pelet, Anna Skopova, Vaclava Steuerwald, Ulrike Baresova, Veronika Zarhrate, Mohammed Plaza, Jean-Marc Hnizda, Ales Krijt, Matyas Souckova, Olga Wibrand, Flemming Andorsdóttir, Guðrið Joensen, Fróði Sedlak, David Bleyer, Anthony J Kmoch, Stanislav Lyonnet, Stanislas Zikanova, Marie Producer: 20200615 In: Human molecular genetics vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	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)
	14.	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)
	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.	Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. [electronic resource] by Zivná, Martina Hůlková, Helena Matignon, Marie Hodanová, Katerina Vylet'al, Petr Kalbácová, Marie Baresová, Veronika Sikora, Jakub Blazková, Hana Zivný, Jan Ivánek, Robert Stránecký, Viktor Sovová, Jana Claes, Kathleen Lerut, Evelyne Fryns, Jean-Pierre Hart, P Suzanne Hart, Thomas C Adams, Jeremy N Pawtowski, Audrey Clemessy, Maud Gasc, Jean-Marie Gübler, Marie-Claire Antignac, Corinne Elleder, Milan Kapp, Katja Grimbert, Philippe Bleyer, Anthony J Kmoch, Stanislav Producer: 20090923 In: American journal of human genetics vol. 85 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	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)
	19.	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)
	20.	Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy. [electronic resource] by Dvela-Levitt, Moran Kost-Alimova, Maria Emani, Maheswarareddy Kohnert, Eva Thompson, Rebecca Sidhom, Eriene-Heidi Rivadeneira, Ana Sahakian, Nareh Roignot, Julie Papagregoriou, Gregory Montesinos, Monica S Clark, Abbe R McKinney, David Gutierrez, Juan Roth, Mark Ronco, Lucienne Elonga, Esther Carter, Todd A Gnirke, Andreas Melanson, Michelle Hartland, Kate Wieder, Nicolas Hsu, Jane C-H Deltas, Constantinos Hughey, Rebecca Bleyer, Anthony J Kmoch, Stanislav Živná, Martina Barešova, Veronika Kota, Savithri Schlondorff, Johannes Heiman, Myriam Alper, Seth L Wagner, Florence Weins, Astrid Golub, Todd R Lander, Eric S Greka, Anna Producer: 20200427 In: Cell vol. 178 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 21 results.