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	1.	Bioinformatic perspectives in the neuronal ceroid lipofuscinoses. [electronic resource] by Kmoch, Stanislav Stránecký, Viktor Emes, Richard D Mitchison, Hannah M Producer: 20131126 In: Biochimica et biophysica acta vol. 1832 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report. [electronic resource] by Prchalova, Darina Havlovicova, Marketa Sterbova, Katalin Stranecky, Viktor Hancarova, Miroslava Sedlacek, Zdenek Producer: 20170803 In: BMC medical genetics vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome. [electronic resource] by Hancarova, Miroslava Havlovicova, Marketa Putzova, Martina Vseticka, Jan Prchalova, Darina Stranecky, Viktor Sedlacek, Zdenek Producer: 20200803 In: American journal of medical genetics. Part A vol. 179 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation. [electronic resource] by Ondruskova, Nina Honzik, Tomas Vondrackova, Alzbeta Stranecky, Viktor Tesarova, Marketa Zeman, Jiri Hansikova, Hana Producer: 20210823 In: Journal of inherited metabolic disease vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations. [electronic resource] by Kovářová, Nikola Cížková Vrbacká, Alena Pecina, Petr Stránecký, Viktor Pronicka, Ewa Kmoch, Stanislav Houštěk, Josef Producer: 20121015 In: Biochimica et biophysica acta vol. 1822 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Validation of rs2956540:G>C and rs3735520:G>A association with keratoconus in a population of European descent. [electronic resource] by Dudakova, Lubica Palos, Michalis Jirsova, Katerina Stranecky, Viktor Krepelova, Anna Hysi, Pirro G Liskova, Petra Producer: 20160506 In: European journal of human genetics : EJHG vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56∗) CRYGD variant in a family with dominantly inherited congenital cataracts. [electronic resource] by Dudakova, Lubica Stranecky, Viktor Ulmanova, Olga Hlavova, Eva Trková, Marie Vincent, Andrea L Liskova, Petra Producer: 20180102 In: Molecular biology reports vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Peritoneal dialysis induces alterations in the transcriptome of peritoneal cells before detectible peritoneal functional changes. [electronic resource] by Parikova, Alena Hruba, Petra Krejcik, Zdenek Stranecky, Viktor Franekova, Janka Krediet, Raymond T Viklicky, Ondrej Producer: 20200505 In: American journal of physiology. Renal physiology vol. 318 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Correction to: Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56*) CRYGD variant in a family with dominantly inherited congenital cataracts. [electronic resource] by Dudakova, Lubica Stranecky, Viktor Ulmanova, Olga Hlavova, Eva Trková, Marie Vincent, Andrea L Liskova, Petra Publication details: Molecular biology reports Dec 2017 In: Molecular biology reports vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	DNA damage response and inflammatory signaling limit the MLL-ENL-induced leukemogenesis in vivo. [electronic resource] by Takacova, Sylvia Slany, Robert Bartkova, Jirina Stranecky, Viktor Dolezel, Petr Luzna, Pavla Bartek, Jiri Divoky, Vladimir Producer: 20120622 In: Cancer cell vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Early isolated V-lesion may not truly represent rejection of the kidney allograft. [electronic resource] by Wohlfahrtova, Mariana Hruba, Petra Klema, Jiri Novotny, Marek Krejcik, Zdenek Stranecky, Viktor Honsova, Eva Vichova, Petra Viklicky, Ondrej Producer: 20190826 In: Clinical science (London, England : 1979) vol. 132 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype. [electronic resource] by Hancarova, Miroslava Babikyan, Davit Bendova, Sarka Midyan, Susanna Prchalova, Darina Shahsuvaryan, Gohar Stranecky, Viktor Sarkisian, Tamara Sedlacek, Zdenek Producer: 20200619 In: Molecular genetics & genomic medicine vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation. [electronic resource] by Havlíčková Karbanová, Vendula Cížková Vrbacká, Alena Hejzlarová, Kateřina Nůsková, Hana Stránecký, Viktor Potocká, Andrea Kmoch, Stanislav Houštěk, Josef Producer: 20130403 In: Biochimica et biophysica acta vol. 1817 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Genetic architecture of recent-onset dilated cardiomyopathy in Moravian region assessed by whole-exome sequencing and its clinical correlates. [electronic resource] by Chaloupka, Anna Piherova, Lenka Grochova, Ilga Binova, Jana Krejci, Jan Spinarova, Lenka Stranecky, Viktor Kmoch, Stanislav Kubanek, Milos Producer: 20200608 In: Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia vol. 163 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Molecular Fingerprints of Borderline Changes in Kidney Allografts Are Influenced by Donor Category. [electronic resource] by Hruba, Petra Krejcik, Zdenek Dostalova Merkerova, Michaela Klema, Jiri Stranecky, Viktor Slatinska, Janka Maluskova, Jana Honsova, Eva Viklicky, Ondrej Producer: 20210323 In: Frontiers in immunology vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes. [electronic resource] by Vlckova, Marketa Simandlova, Martina Zimmermann, Pavel Stranecky, Viktor Hartmannova, Hana Hodanova, Katerina Havlovicova, Marketa Hancarova, Miroslava Kmoch, Stanislav Sedlacek, Zdenek Producer: 20160819 In: European journal of medical genetics vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene. [electronic resource] by Kulhánek, Jan Brožová, Klára Hansíková, Hana Vondráčková, Alžběta Stránecký, Viktor Šenkyřík, Jan Kmoch, Stanislav Zeman, Jiří Honzík, Tomáš Tesařová, Markéta Producer: 20191112 In: Neurologia i neurochirurgia polska vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders. [electronic resource] by Vondráčková, Alžběta Veselá, Kateřina Kratochvílová, Hana Kučerová Vidrová, Vendula Vinšová, Kamila Stránecký, Viktor Honzík, Tomáš Hansíková, Hana Zeman, Jiří Tesařová, Markéta Producer: 20141007 In: European journal of human genetics : EJHG vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	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)
	20.	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)

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Your search returned 57 results.