المؤلفون: Věra Adámková, Stanislav Kmoch, Michal Vrablík, Anna Přistoupilová, M. Neřoldová, Milan Jirsa, Jaroslav A. Hubacek, Lenka Mrázová, Lenka Piherová, Viktor Stránecký, Hana Hartmannová, Kateřina Hodaňová

المصدر: Pharmacogenomics. 17:1405-1414

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Candidate gene, Genotype, Bioinformatics, 03 medical and health sciences, Rare Diseases, Muscular Diseases, Chloride Channels, SH3TC2, Genetics, medicine, Humans, Exome, Myopathy, Exome sequencing, Aged, Genetic association, Aged, 80 and over, Pharmacology, biology, Liver-Specific Organic Anion Transporter 1, Genetic Variation, Heterozygote advantage, Middle Aged, 030104 developmental biology, biology.protein, Molecular Medicine, Female, Hydroxymethylglutaryl-CoA Reductase Inhibitors, medicine.symptom, SLCO1B1, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84163989e2a7498cc8bcbd166c5ae523Test
https://doi.org/10.2217/pgs-2016-0071Test

المؤلفون: Julius Spicak, Milan Jirsa, M. Neřoldová, Irena Míková, Eva Sticova, Věra Lánská, Dana Dlouha, Jaroslav A. Hubacek, Eva Honsova, Pavel Trunecka

المصدر: Transplantation. 104(3)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Genotyping Techniques, medicine.medical_treatment, Biopsy, 030230 surgery, Liver transplantation, Gastroenterology, Polymorphism, Single Nucleotide, Severity of Illness Index, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Postoperative Complications, Non-alcoholic Fatty Liver Disease, Risk Factors, Internal medicine, Genotype, Nonalcoholic fatty liver disease, Prevalence, Medicine, Humans, Allele, Alleles, Transplantation, business.industry, Membrane Proteins, Odds ratio, Lipase, Middle Aged, medicine.disease, Allografts, Tissue Donors, Transplant Recipients, Liver Transplantation, Liver, 030211 gastroenterology & hepatology, Female, Steatosis, business, TM6SF2, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69d9b4b347c64db8dadc1e0038f3a04dTest
https://pubmed.ncbi.nlm.nih.gov/31356578Test

العنوان البديل: Progresivní familiární intrahepatální cholestáza v dospělosti: 60leté sledování. (Czech)

المؤلفون: L., Husová, E., Sticová, V., Žampachová, M., Neřoldová, M., Jirsa

المصدر: Klinická Biochemie a Metabolismus; mar2020, Vol. 28 Issue 1, p11-14, 4p

مصطلحات موضوعية: GAMMA-glutamyltransferase, ADULTS, CARDIOVASCULAR surgery, CHOLESTASIS, PEPTIDASE, MAGNETIC resonance imaging, PORTAL hypertension

مصطلحات جغرافية: BRNO (Czech Republic)

المؤلفون: K. Michalová, Stanislav Kmoch, M. J. Beneš, Viktor Stránecký, Soňa Fraňková, Ondrej Luksan, Eva Honsova, M. Neřoldová, Milan Jirsa

المصدر: Clinical Genetics. 87:96-98

مصطلحات موضوعية: Genetics, Hereditary haemochromatosis, business.industry, Mutation (genetic algorithm), Medicine, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b262bacbcbf760d5f6a7fe3555fdc267Test
https://doi.org/10.1111/cge.12346Test

المؤلفون: Stanislav Kmoch, Michal Vrablík, Lenka Piherová, Petra Zemankova, Anna Přistoupilová, Milan Jirsa, Viktor Stránecký, Hana Hartmannová, Věra Adámková, Kateřina Hodaňová, M. Neřoldová

المصدر: Scopus-Elsevier
ResearcherID

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, DNA Copy Number Variations, Genotype, Physiology, Genome-wide association study, 03 medical and health sciences, Muscular Diseases, Hyperbilirubinemia, Hereditary, mental disorders, Genetic predisposition, medicine, Humans, Copy-number variation, Myopathy, Creatine Kinase, Genotyping, Exome, Aged, Aged, 80 and over, Genetics, biology, Genome, Human, Liver-Specific Organic Anion Transporter 1, business.industry, General Medicine, Middle Aged, medicine.disease, Cytochrome P-450 CYP2C19, 030104 developmental biology, Genetic Loci, Case-Control Studies, Congenital muscular dystrophy, biology.protein, Female, Hydroxymethylglutaryl-CoA Reductase Inhibitors, medicine.symptom, SLCO1B1, business, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a9e59d164f8bd46927109d1fa98be0fTest
http://www.scopus.com/inward/record.url?eid=2-s2.0-85011900748&partnerID=MN8TOARSTest