Rezultati pretrage - Lenka Piherová
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1
Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction od Miloš Kubánek, Tereza Schimerová, Lenka Piherová, Andreas Brodehl, Alice Krebsová, Sandra Ratnavadivel, Caroline Stanasiuk, Hana Hansíková, J Zeman, Tomáš Paleček, J Houštěk, Z Drahota, Hana Nůsková, Jana Mikešová, Josef Zámečnı́k, Milan Maçek, Petr Ridzoň, Jana Malušková, Viktor Stránecký, Vojtěch Melenovský, Hendrik Milting, Stanislav Kmoch
Izdano 2020Artigo -
2
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 od Hana Hartmannová, Lenka Piherová, Kateřina Tauchmannová, Kendrah Kidd, Philip D. Acott, John F. S. Crocker, Youcef Oussedik, Marcel Mallet, Kateřina Hodaňová, Viktor Stránecký, Anna Přistoupilová, Veronika Barešová, Ivana Jedličková, Martina Živná, Jana Sovová, Helena Hůlková, Vicki Robins, Marek Vrbacký, Petr Pecina, Vilma Kaplanová, J Houštěk, Tomáš Mráček, Yves Thibeault, Anthony J. Bleyer, Stanislav Kmoch
Izdano 2016Artigo -
3
Mutations in ANTXR1 Cause GAPO Syndrome od Viktor Stránecký, Alexander Hoischen, Hana Hartmannová, Maha S. Zaki, Amit Chaudhary, Enrique Zudaire, Lenka Nosková, Veronika Barešová, Anna Přistoupilová, Kateřina Hodaňová, Jana Sovová, Helena Hůlková, Lenka Piherová, Jayne Y. Hehir‐Kwa, Deepthi De Silva, Manouri P Senanayake, Sameh Farrag, J Zeman, Pavel Martásek, A Baxová, Hanan H. Afifi, Brad St. Croix, Han G. Brunner, Samia A. Temtamy, Stanislav Kmoch
Izdano 2013Artigo -
4
Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness od Stanislav Kmoch, Jacek Majewski, Vasanth Ramamurthy, Shenghao Cao, Somayyeh Fahiminiya, Haitao Ren, Ian M. MacDonald, I. López, Vincent Sun, Vafa Keser, Ayesha Khan, Viktor Stránecký, Hana Hartmannová, Anna Přistoupilová, Kateřina Hodaňová, Lenka Piherová, Ladislav Kuchař, A Baxová, R Chen, Orlando Graziani Póvoas Barsottini, Angela Pyle, Helen Griffin, Miranda Splitt, Juliana Maria Ferraz Sallum, John Tolmie, Julian R. Sampson, Patrick F. Chinnery, Kym M. Boycott, Alex MacKenzie, Michael Brudno, Dennis E. Bulman, David A. Dyment, Eyal Banin, Dror Sharon, Sayantanee Dutta, Rudi Grebler, C. Helfrich-Foerster, José Luiz Pedroso, Doris Kretzschmar, Michel Cayouette, R. K. Koenekoop
Izdano 2015Artigo
Alati za pretragu:
Povezani predmeti
Biology
Gene
Genetics
Mutation
Phenotype
Cell biology
Medicine
Mitochondrial DNA
Mitochondrial disease
Mitochondrion
Pathology
RNA
RNA splicing
Respiratory chain
Biopsy
Cardiomyopathy
Degeneration (medical)
Desmin
Exome sequencing
Fanconi syndrome
Heart failure
Hereditary spastic paraplegia
Immunohistochemistry
Internal medicine
Kidney
Missense mutation
Mitochondrial biogenesis
Molecular biology
Muscle biopsy
Mutant