Lenka Mrázová

Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)

Martin Hřebı́ček, Lenka Mrázová, Volkan Seyrantepe et al. · The American Journal of Human Genetics · 2006 · 95 citations · Full text

Sanfilippo C Syndrome, Autoimmune Disease, Genetic Disorder +6

European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences

Julia Vry, K. Gramsch, Sunil Rodger et al. · Journal of Neuromuscular Diseases · 2016 · 94 citations · Full text

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients

Sarah C. Grünert, Sonja Marina Schlatter, Robert Niklas Schmitt et al. · Molecular Genetics and Metabolism · 2017 · 45 citations

Inherited Metabolic Disease, Clinical Presentation, Pathology +2

Contiguous X-chromosome Deletion Syndrome Encompassing the BTK, TIMM8A, TAF7L, and DRP2 Genes

Anna Šedivá, Anna Asplund, Jan Hadač et al. · Journal of Clinical Immunology · 2007 · 42 citations

Chromatin, Developmental Biology, Cytogenetics +8

Analysis of the β-Glucocerebrosidase Gene in Czech and Slovak Gaucher Patients: Mutation Profile and Description of Six Novel Mutant Alleles

Kateřina Hodaňová, Martin Hřebı́ček, Markéta Červenková et al. · Blood Cells Molecules and Diseases · 1999 · 41 citations

Biology, Allelic Variant, Mendelian Disorder +11