Resultados da busca - Lenka Piherová
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1
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 por 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
Publicado em 2016Artigo -
2
Mutations in ANTXR1 Cause GAPO Syndrome por 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
Publicado em 2013Artigo -
3
Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness por 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
Publicado em 2015Artigo
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Assuntos relacionados
Biology
Gene
Genetics
Cell biology
Mutation
Phenotype
RNA
RNA splicing
Degeneration (medical)
Fanconi syndrome
Hereditary spastic paraplegia
Kidney
Medicine
Missense mutation
Mitochondrial DNA
Mitochondrial biogenesis
Mitochondrial disease
Mitochondrion
Molecular biology
Mutant
Neuroscience
Nonsense
Nonsense mutation
Pathology
Photoreceptor cell
Respiratory chain
Retina
Retinal degeneration
Retinitis pigmentosa