Kmoch, Stanislav

Adenylosuccinate lyase deficiency

Jurecka, A., Zikanova, M., Kmoch, S., & Tylki‐Szymańska, A. (2015) · Journal of Inherited Metabolic Disease

Biochemical and Molecular ResearchMetabolism and Genetic Disorders

Cited by 139

Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients

Kmoch, S. (2000) · Human Molecular Genetics

Biochemical and Molecular ResearchMetabolism and Genetic Disorders

Cited by 90

Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange

Dvoráková, L., Štorkánová, G., Unterrainer, G., Hujová, J., Kmoch, S., Zeman, J., Hrebícek, M., & Berger, J. (2001) · Human Mutation

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 23

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

Hiatt, S. M., Trajkova, S., Sebastiano, M. R., Partridge, E. C., Abidi, F. E., Anderson, A., Ansar, M., Antonarakis, S. E., Azadi, A., Bachmann-Gagescu, R., et al. (2023) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 21

Rare copy number variation in extremely impulsively violent males

Vevera, J., Zarrei, M., Hartmannová, H., Jedličková, I., Mušálková, D., Přistoupilová, A., Oliveriusová, P., Trešlová, H., Nosková, L., Hodaňová, K., et al. (2019) · Genes, Brain and Behavior

Psychopathy, Forensic Psychiatry, Sexual OffendingGenomic variations and chromosomal abnormalities

Cited by 15

Large Copy-Number Variations in Patients With Statin-Associated Myopathy Affecting Statin Myopathy-Related Loci

STRÁNECKÝ, V., NEŘOLDOVÁ, M., HODAŇOVÁ, K., HARTMANNOVÁ, H., PIHEROVÁ, L., ZEMÁNKOVÁ, P., PŘISTOUPILOVÁ, A., VRABLÍK, M., ADÁMKOVÁ, M., KMOCH, S., et al. (2016) · Physiological Research

Pharmacogenetics and Drug MetabolismLipoproteins and Cardiovascular Health

Cited by 7