المؤلفون: Jiří Bonaventura, Patricia Norambuena, Pavol Tomašov, Denisa Jindrová, Hana Šedivá, Milan Macek Jr, Josef Veselka

المصدر: Archives of Medical Science, Vol 15, Iss 3, Pp 641-649 (2018)

مصطلحات موضوعية: genetic mutations, hypertrophic cardiomyopathy, diagnostic value, genetic testing, Medicine

وصف الملف: electronic resource

Relation: https://www.termedia.pl/The-utility-of-the-Mayo-Score-for-predicting-the-yield-of-genetic-testing-in-patients-with-hypertrophic-cardiomyopathy,19,33903,1,1.html; https://doaj.org/toc/1734-1922; https://doaj.org/toc/1896-9151

URL الوصول: https://doaj.org/article/d9edeb89f3c24f368c55b4db5bc39952

المؤلفون: Pavel Votýpka, Alice Krebsová, Patricia Norambuena-Poustková, Petra Peldová, Štěpánka Pohlová Kučerová, Markéta Kulvajtová, Petra Dohnalová, Matěj Bílek, Veronika Stufka, Kristina Rücklová, Iva Grossová, Hanka Wünschová, Terezia Tavačová, Jana Hašková, Markéta Segeťová, Jakub Štoček, Andrea Gřegořová, Veronika Zoubková, Jana Petřková, Martin Dobiáš, Michal Makuša, Alžběta Blanková, David Vajtr, Hynek Řehulka, Ivan Šubrt, Alexander Pilin, Petr Tomášek, Jan Janoušek, Josef Kautzner, Milan Macek

المصدر: International Journal of Legal Medicine.

مصطلحات موضوعية: Pathology and Forensic Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ada0e0bb3de74310533df724d41bbbbd
https://doi.org/10.1007/s00414-023-03007-z

المؤلفون: Milan Macek, Patricia Norambuena, Stanislav Kmoch, Lenka Piherová, Viktor Stranecky, A Krebsova, D Wichterle, J Kautzner, Petr Peichl, Robert Cihak

المصدر: European Heart Journal. 42

مصطلحات موضوعية: medicine.medical_specialty, Ventricular tachycardia ablation, business.industry, Internal medicine, Mutation (genetic algorithm), medicine, Cardiomyopathy, Cardiology, In patient, Cardiology and Cardiovascular Medicine, medicine.disease, business, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::12242d97246842cc25b8fe49f737ec16
https://doi.org/10.1093/eurheartj/ehab724.0662

المؤلفون: Hana Hnátová, Milan Macek, Patricia Norambuena, Pavel Votýpka, Josef Veselka, Jiří Bonaventura, Radka Adlová

المصدر: Cardiovasc Diagn Ther

مصطلحات موضوعية: medicine.medical_specialty, Alcohol septal ablation, business.industry, Mortality rate, Cardiomyopathy, Hypertrophic cardiomyopathy, 030204 cardiovascular system & hematology, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Internal medicine, Genotype, medicine, Cardiology, Ventricular outflow tract, Original Article, 030212 general & internal medicine, Interventricular septum, Cardiology and Cardiovascular Medicine, Cardiovascular centre, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::454e8fbd1b512fd7536126cfe138bda5
https://pubmed.ncbi.nlm.nih.gov/32420099

المؤلفون: Jana Paderova, Jana Drabova, Andrea Holubova, Marketa Vlckova, Marketa Havlovicova, Andrea Gregorova, Radka Pourova, Vera Romankova, Veronika Moslerova, Jan Geryk, Patricia Norambuena, Veronika Krulisova, Anna Krepelova, Milan Macek

المصدر: European Journal of Medical Genetics. 61:315-321

مصطلحات موضوعية: Male, 0301 basic medicine, Microcephaly, Genotype, Ubiquitin-Protein Ligases, Nerve Tissue Proteins, Biology, Receptors, N-Methyl-D-Aspartate, Genetic Heterogeneity, 03 medical and health sciences, Intellectual Disability, Genetic variation, Genetics, medicine, Humans, Abnormalities, Multiple, Exome, Child, Gene, Ribonucleoprotein, U5 Small Nuclear, Genetics (clinical), Exome sequencing, Chromosomes, Human, Pair 14, Histone Demethylases, Comparative Genomic Hybridization, Genetic heterogeneity, Tumor Suppressor Proteins, High-Throughput Nucleotide Sequencing, Nuclear Proteins, General Medicine, Peptide Elongation Factors, medicine.disease, Hematologic Diseases, Phenotype, Neoplasm Proteins, DNA-Binding Proteins, 030104 developmental biology, Vestibular Diseases, Child, Preschool, Face, Female, Kabuki syndrome, Mandibulofacial Dysostosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c9edade7f30807c6ec163586eaf687f
https://doi.org/10.1016/j.ejmg.2018.01.005

المؤلفون: D Jindrova, Jiří Bonaventura, Hana Sediva, Milan Macek, Patricia Norambuena, Josef Veselka, Pavol Tomašov

المصدر: European Heart Journal. 39

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Internal medicine, Hypertrophic cardiomyopathy, Cardiology, Medicine, In patient, Cardiology and Cardiovascular Medicine, business, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b246807b5545ff0180b96b89db01d9f2
https://doi.org/10.1093/eurheartj/ehy566.p6323

المؤلفون: Pavol Tomašov, Jiří Bonaventura, Jan Geryk, Josef Veselka, Milan Macek, Patricia Norambuena

المصدر: European Heart Journal. 39

مصطلحات موضوعية: Massive parallel sequencing, medicine.diagnostic_test, business.industry, Hypertrophic cardiomyopathy, Medicine, Computational biology, Cardiology and Cardiovascular Medicine, business, medicine.disease, Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d93fd3922cc232c636694be9102da0c6
https://doi.org/10.1093/eurheartj/ehy563.4291

المؤلفون: Josef Veselka, Hana Sediva, Milan Macek, Patricia Norambuena, Jiří Bonaventura, Denisa Jindrová, Pavol Tomašov

المصدر: Archives of Medical Science : AMS
Archives of Medical Science, Vol 15, Iss 3, Pp 641-649 (2018)

مصطلحات موضوعية: medicine.medical_specialty, lcsh:Medicine, genetic mutations, genetic testing, 03 medical and health sciences, 0302 clinical medicine, Clinical Research, Internal medicine, Genotype, medicine, In patient, 030212 general & internal medicine, Genetic testing, medicine.diagnostic_test, business.industry, lcsh:R, Hypertrophic cardiomyopathy, General Medicine, medicine.disease, hypertrophic cardiomyopathy, Cohort, Medical genetics, Mayo score, Personalized medicine, diagnostic value, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75524e0acf303619c426f10635ce06d2
https://pubmed.ncbi.nlm.nih.gov/31110529

المؤلفون: Veronika Stará, Viktor Stranecky, Hana Vlaskova, Stanislav Kmoch, Lenka Piherová, Alice Krebsová, Ondrej Pelak, Filip Majer, Patricia Norambuena, Martin Reboun, Tomas Kalina, Milos Kubanek, Lenka Dvorakova, Jakub Sikora

المصدر: American journal of medical genetics. Part A. 176(11)

مصطلحات موضوعية: Proband, Adult, Male, Heterozygote, Adolescent, DNA Copy Number Variations, 030204 cardiovascular system & hematology, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Lysosomal-Associated Membrane Protein 2, Genetics, Medicine, Humans, Danon disease, Family, Copy-number variation, Allele, Myopathy, Child, Genetics (clinical), X chromosome, LAMP2, Base Sequence, business.industry, Heterozygote advantage, Exons, medicine.disease, Glycogen Storage Disease Type IIb, Pedigree, Female, medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbe8f518952b60d911cb3d9665a086b0
https://pubmed.ncbi.nlm.nih.gov/30194816

المؤلفون: Milan Macek, Patricia Norambuena, A. Stambergova, P. Krenkova, Joshua A. Copeland

المصدر: Clinical Biochemistry. 42:1308-1316

مصطلحات موضوعية: Genetics, Diagnostic methods, Genotype, biology, DNA Mutational Analysis, Clinical Biochemistry, Genetic Variation, Reproducibility of Results, General Medicine, Computational biology, Amplicon, Sensitivity and Specificity, High Resolution Melt, Methylenetetrahydrofolate reductase, Methylenetetrahydrofolate reductase gene, biology.protein, Humans, Diagnostic laboratory, Genotyping, Methylenetetrahydrofolate Reductase (NADPH2)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ed28a09a5f0237a597a591ff9aeb700
https://doi.org/10.1016/j.clinbiochem.2009.04.015

المؤلفون: Bashar Aldhoon, Lenka Piherová, Stanislav Kmoch, J Kautzner, Viktor Stranecky, Petr Peichl, Milos Kubanek, Robert Cihak, D Wichterle, A Krebsova, Milan Macek, Patricia Norambuena, Kenichiro Yamagata

المصدر: EP Europace. 19:iii253-iii253

مصطلحات موضوعية: medicine.medical_specialty, biology, business.industry, Desmoplakin, medicine.medical_treatment, Cardiomyopathy, Catheter ablation, Cardiac Ablation, medicine.disease, Arrhythmogenic substrate, Physiology (medical), Internal medicine, Mutation (genetic algorithm), biology.protein, Cardiology, Medicine, In patient, Cardiology and Cardiovascular Medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d973893beade51837d766e20a851ee2f
https://doi.org/10.1093/ehjci/eux154.006

المؤلفون: Pavol Tomasov, Patricia Norambuena, Denisa Jahnlova, Jiri Bonaventura, Nikola Ptakova, Milan Macek, Josef Veselka

المصدر: Journal of the American College of Cardiology. 68:B328

مصطلحات موضوعية: medicine.medical_specialty, Alcohol septal ablation, business.industry, Internal medicine, medicine, Hypertrophic cardiomyopathy, Cardiology, In patient, Cardiology and Cardiovascular Medicine, medicine.disease, business, DNA sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3729ef4ad6133701722eb6cdfd1b2b3b
https://doi.org/10.1016/j.jacc.2016.09.843

المؤلفون: Milan Macek, Patricia Norambuena, A. Stambergova, P. Krenkova

المصدر: Journal of Cystic Fibrosis. 7

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, business.industry, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Medicine, Pediatrics, Perinatology, and Child Health, business, medicine.disease, Molecular biology, Cystic fibrosis, High Resolution Melt, Cftr gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fce5d2c96982d73669bee209fd232fd8

المؤلفون: Jaime Eyzaguirre, Marcela Colombres, Jose A. Garate, Luis F. Larrondo, Soledad Quiroz, Raul Araya-Secchi, Carlos F. Lagos, Tomas Perez-Acle, Patricia Norambuena

المصدر: JOURNAL OF COMPUTER AIDED MOLECULAR DESIGN
Artículos CONICYT
CONICYT Chile
instacron:CONICYT

مصطلحات موضوعية: Models, Molecular, Cutinase, Molecular Sequence Data, Penicillium purpurogenum, Polymerase Chain Reaction, Esterase, Substrate Specificity, Drug Discovery, Catalytic triad, Hydrolase, Amino Acid Sequence, Amino Acids, Physical and Theoretical Chemistry, DNA Primers, chemistry.chemical_classification, Base Sequence, Sequence Homology, Amino Acid, biology, Penicillium, Active site, Fatty acid, biology.organism_classification, Computer Science Applications, Amino acid, chemistry, Biochemistry, biology.protein, Acetylesterase, Electrophoresis, Polyacrylamide Gel

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d151a6da49552dce8dd30bd55d69354

المؤلفون: T. Piskackova, Dana Zemkova, J. Bartosova, Petra Křenková, J. Camajova, Alice Krebsová, Lenka Dvořáková, Marek Turnovec, Věra Vávrová, M. Libik, Monika Koudova, Veronika Skalická, Miroslava Balascakova, Veronika Krulisova, A. Holubová, A. Stambergova, T. Kucerova, Milan Macek, Patricia Norambuena, Libor Fila

المصدر: Journal of Cystic Fibrosis; Vol 12

مصطلحات موضوعية: Male, Pulmonary and Respiratory Medicine, Czech, Newborn screening, Population, Cystic Fibrosis Transmembrane Conductance Regulator, Cystic fibrosis, 03 medical and health sciences, Polymorphism (computer science), Humans, Medicine, Coding region, Pediatrics, Perinatology, and Child Health, Multiplex ligation-dependent probe amplification, Allele, Child, education, Alleles, 030304 developmental biology, Czech Republic, Genetics, 0303 health sciences, education.field_of_study, Clinical Laboratory Techniques, business.industry, Central Europe, 030305 genetics & heredity, De novo CFTR mutation, language.human_language, 3. Good health, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), language, business, Demography

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c23e71a89b0acbd0bbefdbc4fa98c06

المؤلفون: Aguilera-Radic, Jose, Pedro Bouchon Aguirre, Tania Alexandra Alfaro Mohr, María De Los Ángel Eraña Fano, María Patricia Norambuena Pape

المساهمون: Pontificia Universidad Católica de Chile

مصطلحات موضوعية: Conocimiento General, Tecnología y Ciencias de la Ingeniería, Procesamiento y Tecnología de Alimentos, Ingeniería y Tecnología, Otras Ingenierias y Tecnologias, Tecnología de los Alimentos

جغرافية الموضوع: Región Metropolitana

Relation: instname: Conicyt; reponame: Repositorio Digital RI2.0; info:eu-repo/grantAgreement/Fondecyt/1060713; http://hdl.handle.net/10533/163858

الاتاحة: http://hdl.handle.net/10533/163858