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Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease ( vol 18 , e0288907 , 2023) Neroldova, Magdalena; Ciara, Elzbieta; Slatinska, Janka; Frankova, Sona; Liskova, Petra; Kotalova, Radana; Globinovska, Janka; Safarikova, Marketa; Pfeiferova, Lucie; Zunova, Hana; Mrazova, Lenka; Stranecky, Viktor; Vrbacka, Alena; Fabian, Ondrej; Sticova, Eva; Skanderova, Daniela; Sperl, Jan; Kalousova, Marta; Zima, Tomas; Macek, Milan; Pawlowska, Joanna; Knisely, A. S.; Kmoch, Stanislav; Jirsa, Milan Share Save
Haplotype variability in mitochondrial rRNA predisposes to metabolic syndrome Pecina, Petr; Cunatova, Kristyna; Kaplanova, Vilma; Puertas-Frias, Guillermo; Silhavy, Jan; Tauchmannova, Katerina; Vrbacky, Marek; Cajka, Tomas; Gahura, Ondrej; Hlavackova, Marketa; Stranecky, Viktor; Kmoch, Stanislav; Pravenec, Michal; Houstek, Josef; Mracek, Tomas; Pecinova, Alena Share Save
Novel phenotype of COASY deficiency is characterized by fatal neonatal hepathopathy with severe hypoglycaemia, hyperammonaemia and lactic acidosis Stufkova, Hana; Majer, Filip; Hanak, Petr; Noskova, Lenka; Stranecky, Viktor; Rychtarova, Lucie; Ferdinandusse, Sacha; Krizova, Jana; Hansikova, Hana; Tesarova, Marketa; Kmoch, Stanislav; Kolarova, Hana; Honzik, Tomas; Sikora, Jakub Share Save
Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy Kubanek, Milos; Binova, Jana; Piherova, Lenka; Krebsova, Alice; Kotrc, Martin; Hartmannova, Hana; Hodanova, Katerina; Musalkova, Dita; Stranecky, Viktor; Palecek, Tomas; Chaloupka, Anna; Grochova, Ilga; Krejci, Jan; Petrkova, Jana; Melenovsky, Vojtech; Kmoch, Stanislav; Kautzner, Josef Share Save
Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients Baumgartner, Daniel; Musova, Zuzana; Zidkova, Jana; Hedvicakova, Petra; Vlckova, Eva; Joppekova, Lubica; Kramarova, Tereza; Fajkusova, Lenka; Stranecky, Viktor; Geryk, Jan; Votypka, Pavel; Mazanec, Radim Share Save
A comprehensive analysis of germline predisposition to early-onset ovarian cancer Horackova, Klara; Zemankova, Petra; Nehasil, Petr; Vocka, Michal; Hovhannisyan, Milena; Matejkova, Katerina; Janatova, Marketa; Cerna, Marta; Kleiblova, Petra; Jelinkova, Sandra; Stastna, Barbora; Just, Pavel; Dolezalova, Tatana; Nemcova, Barbora; Urbanova, Marketa; Koudova, Monika; Hazova, Jana; Machackova, Eva; Foretova, Lenka; Stranecky, Viktor; Zikan, Michal; Kleibl, Zdenek; Soukupova, Jana Share Save
A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis Elhassan, Elhussein A. E.; Kmochova, Tereza; Benson, Katherine A.; Fennelly, Neil K.; Baresova, Veronika; Kidd, Kendrah; Doyle, Brendan; Dorman, Anthony; Morrin, Martina M.; Kyne, Niamh C.; Vyletal, Petr; Hartmannova, Hana; Hodanova, Katerina; Sovova, Jana; Musalkova, Dita; Vrbacka, Alena; Pristoupilova, Anna; Zivny, Jan; Svojsova, Klara; Radina, Martin; Stranecky, Viktor; Loginov, Dmitry; Pompach, Petr; Novak, Petr; Vanickova, Zdislava; Hansikova, Hana; Rajnochova-Bloudickova, Silvie; Viklicky, Ondrej; Hulkova, Helena; Cavalleri, Gianpiero L.; Hnizda, Ales; Bleyer, Anthony J.; Kmoch, Stanislav; Conlon, Peter J.; Zivna, Martina Share Save
Sodium-glucose cotransporter 2 inhibitors induce anti-inflammatory and anti-ferroptotic shift in epicardial adipose tissue of subjects with severe heart failure Kasperova, Barbora Judita; Mraz, Milos; Svoboda, Petr; Hlavacek, Daniel; Kratochvilova, Helena; Modos, Istvan; Vrzackova, Nikola; Ivak, Peter; Janovska, Petra; Kobets, Tatyana; Mahrik, Jakub; Riecan, Martin; Mrazova, Lenka Steiner; Stranecky, Viktor; Netuka, Ivan; Cajka, Tomas; Kuda, Ondrej; Melenovsky, Vojtech; Hubackova, Sona Stemberkova; Haluzik, Martin Share Save
A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition Zemankova, Petra; Cerna, Marta; Horackova, Klara; Ernst, Corinna; Soukupova, Jana; Borecka, Marianna; Bluemcke, Britta; Cerna, Leona; Cerna, Monika; Curtisova, Vaclava; Dolezalova, Tatana; Duskova, Petra; Dvorakova, Lenka; Foretova, Lenka; Havranek, Ondrej; Hauke, Jan; Hahnen, Eric; Hodulova, Miloslava; Hovhannisyan, Milena; Hruskova, Lucie; Janatova, Marketa; Janikova, Maria; Jelinkova, Sandra; Just, Pavel; Kosarova, Marcela; Koudova, Monika; Krutilkova, Vera; Machackova, Eva; Matejkova, Katerina; Michalovska, Renata; Misove, Adela; Nehasil, Petr; Nemcova, Barbora; Novotny, Jan; Panczak, Ales; Pesek, Pavel; Scheinost, Ondrej; Springer, Drahomira; Stastna, Barbora; Stranecky, Viktor; Subrt, Ivan; Tavandzis, Spiros; Tureckova, Eva; Vesela, Kamila; Vlckova, Zdenka; Vocka, Michal; Wappenschmidt, Barbara; Zima, Tomas; Kleibl, Zdenek; Kleiblova, Petra Share Save
Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis Kmochova, Tereza; Kidd, Kendrah O.; Orr, Andrew; Hnizda, Ales; Hartmannova, Hana; Hodanova, Kate ina; Vyletal, Petr; Nausova, Karolina; Brinsa, Vitezslav; Treslova, Helena; Sovova, Jana; Baresova, Veronika; Svojsova, Klara; Vrbacka, Alena; Stranecky, Viktor; Robins, Victoria C.; Taylor, Abbigail; Martin, Lauren; Rivas-Chavez, Ana; Payne, Riley; Bleyer, Heidi A.; Williams, Adrienne; Rennke, Helmut G.; Weins, Astrid; Short, Patrick J.; Agrawal, Varun; Storsley, Leroy J.; Waikar, Sushrut S.; McPhail, Ellen D.; Dasari, Surendra; Leung, Nelson; Hewlett, Tom; Yorke, Jake; Gaston, Daniel; Geldenhuys, Laurette; Samuels, Mark; Levine, Adam P.; West, Michael; Hulkova, Helena; Pompach, Petr; Novak, Petr; Weinberg, Richard B.; Bedard, Karen; Zivna, Martina; Sikora, Jakub; Bleyer Sr, Anthony J.; Kmoch, Stanislav Share Save
Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy Dudakova, Lubica; Noskova, Lenka; Kmoch, Stanislav; Filipec, Martin; Filous, Ales; Davidson, Alice E.; Toulis, Vasileios; Jedlickova, Jana; Skalicka, Pavlina; Hartmannova, Hana; Stranecky, Viktor; Drabova, Jana; Novotna, Drahuse; Havlovicova, Marketa; Sedlacek, Zdenek; Liskova, Petra Share Save
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ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability Skopkova, Martina; Stufkova, Hana; Rambani, Vibhuti; Stranecky, Viktor; Brennerova, Katarina; Kolnikova, Miriam; Pietrzykova, Michaela; Karhanek, Miloslav; Noskova, Lenka; Tesarova, Marketa; Hansikova, Hana; Gasperikova, Daniela Share Save
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome Stenton, Sarah L.; Tesarova, Marketa; Sheremet, Natalia L.; Catarino, Claudia; Carelli, Valerio; Ciara, Elzbieta; Curry, Kathryn; Engvall, Martin; Fleming, Leah R.; Freisinger, Peter; Iwanicka-Pronicka, Katarzyna; Jurkiewicz, Elzbieta; Klopstock, Thomas; Koenig, Mary K.; Kolarova, Hana; Kousal, Bohdan; Krylova, Tatiana; La Morgia, Chiara; Noskova, Lenka; Piekutowska-Abramczuk, Dorota; Russo, Sam N.; Stranecky, Viktor; Tothova, Iveta; Traisk, Frank; Prokisch, Holger Share Save
A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis Sikora, Jakub; Kmochova, Tereza; Musalkova, Dita; Pohludka, Michal; Prikryl, Petr; Hartmannova, Hana; Hodanova, Katerina; Treslova, Helena; Noskova, Lenka; Mrazova, Lenka; Stranecky, Viktor; Lunova, Mariia; Jirsa, Milan; Honsova, Eva; Dasari, Surendra; McPhail, Ellen D.; Leung, Nelson; Zivna, Martina; Bleyer, Anthony J.; Rychlik, Ivan; Rysava, Romana; Kmoch, Stanislav Share Save
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Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy Lahrouchi, Najim; Postma, Alex V.; Salazar, Christian M.; Laughter, Daniel M. De; Tjong, Fleur; Piherova, Lenka; Bowling, Forrest Z.; Zimmerman, Dominic; Lodder, Elisabeth M.; Ta-Shma, Asaf; Perles, Zeev; Beekman, Leander; Ilgun, Aho; Gunst, Quinn; Hababa, Mariam; Skoric-Milosavljevic, Doris; Stranecky, Viktor; Tomek, Viktor; Knijff, Peter de; Leeuw, Rick de; Robinson, Jamille Y.; Burn, Sabrina C.; Mustafa, Hiba; Ambrose, Matthew; Moss, Timothy; Jacober, Jennifer; Niyazov, Dmitriy M.; Wolf, Barry; Kim, Katherine H.; Cherny, Sara; Rousounides, Andreas; Aristidou-Kallika, Aphrodite; Tanteles, George; Ange-Line, Bruel; Denomme-Pichon, Anne-Sophie; Francannet, Christine; Ortiz, Damara; Haak, Monique C.; Harkel, Arend D. J. Ten; Manten, Gwendolyn T. R.; Dutman, Annemiek C.; Bouman, Katelijne; Magliozzi, Monia; Radio, Francesca Clementina; Santen, Gijs W. E.; Herkert, Johanna C.; Brown, H. Alex; Elpeleg, Orly; Hoff, Maurice J. B. van den; Mulder, Barbara; Airola, Michael V.; Kmoch, Stanislav; Barnett, Joey V.; Clur, Sally-Ann; Frohman, Michael A.; Bezzina, Connie R. Share Save
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