Jiri Zeman - Laboratory for the Study of Mitochondrial Disorders, General University Hospital in Prague

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论文共 193 篇作者统计合作学者相似作者

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LargeTRAPPC11gene Deletions As a Cause of Muscular Dystrophy and Their Estimated Genesis

Johana Kopcilova,Hana Ptackova,Tereza Kramarova,Lenka Fajkusova,Kamila Reblova,Jiri Zeman,Tomas Honzik,Lucie Zdrazilova,Josef Zamecnik,Patricia Balazova,Karin Viestova,Miriam Kolnikova,Hana Hansikova,Jana Zidkova

Journal of medical genetics（2024）

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Hepatocellular Carcinoma in an Infant with Tyrosinemia Type 1

Silvie Kelifová,Tomáš Honzík,Markéta Tesařová,Lucie Gonsorčíková,Eva Sticová, Jana Mašková,J Malis,Jiří Froněk,Jiří Zeman

Československá pediatrie/Česko-slovenská pediatrieno. 3 (2023): 161-165

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Prevalence of DDC Genotypes in Patients with Aromatic L-amino Acid Decarboxylase (AADC) Deficiency and in Silico Prediction of Structural Protein Changes

MOLECULAR GENETICS AND METABOLISMno. 4 (2023)

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Autosomal Dominant Zellweger Spectrum Disorder Caused by De Novo Variants in PEX14 Gene

Hans R. Waterham,Janet Koster,Merel S. Ebberink,Pavel Jesina,Jiri Zeman,Lenka Noskova,Stanislav Kmoch, Perrine Devic,David Cheillan,Ronald J. A. Wanders,Sacha Ferdinandusse

GENETICS IN MEDICINEno. 11 (2023)

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Mutations in PPOX gene in Czech patients with variegate porphyria

Daniela Zahorakova,Karel Medek,Jiri Zeman,Pavel Martasek

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 155-156

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Mitochondrial organization and structure are compromised in fibroblasts from patients with Huntington's disease

Marie Vanisova,Hana Stufkova,Michaela Kohoutova,Tereza Rakosnikova,Jana Krizova,Jiri Klempir,Irena Rysankova,Jan Roth,Jiri Zeman,Hana Hansikova

ULTRASTRUCTURAL PATHOLOGY（2022）

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Hematopoietic Stem Cell Transplantation in Children with Inborn Errors of Metabolism and Malignant Infantile Osteopetrosis

Renata Formánková,Petr Říha,Petra Keslová,Pavel Ješina,Tomáš Honzík,Martin Magner,Jan Starý,Petr Sedláček,Jiří Zeman

Česko-slovenská pediatrieno. 5 (2022): 276-283

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Pierpont Syndrome Due to Mutation C.1337a>g in TBL1XR1 Gene

Marketa Tesarova,Alice Baxova,Hana Hansikova,Lukas Lambert,Alzbeta Vondrackova,Alena Leiska,Jiri Zeman

Clinical dysmorphologyno. 3 (2022): 145-148

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A Novel MTTK Gene Variant M.8315a>c As a Cause of MERRF Syndrome

Hana Stufkova,Hana Kolarova,Katerina Lokvencova,Tomas Honzik,Jiri Zeman,Hana Hansikova,Marketa Tesarova

Genes（2022）

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Inborn Errors of Amino Acid, Organic Acid Metabolism and Disorders of the Urea Cycle

Tomáš Honzík,Jiří Zeman

Československá pediatrie/Česko-slovenská pediatrieno. 6 (2022): 370-382

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