المؤلفون: Zuzana Hrubá, Adéla Kotzianová, Ondřej Židek, Marek Pokorný, Vladimír Velebný, Štěpán Vondrovic

المصدر: Textile Research Journal. 92:717-729

مصطلحات موضوعية: Pressure drop, Micrometer scale, Materials science, Polymers and Plastics, Chemical engineering, law, Nanofiber, Chemical Engineering (miscellaneous), Deposition (phase transition), Filtration, Electrospinning, law.invention

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0899d329415a203a7b302d8e83805e97
https://doi.org/10.1177/00405175211044164

المؤلفون: Liucija Paniuskyte, Zuzana Hrubá, Brian Bemman

المصدر: Lecture Notes of the Institute for Computer Sciences, Social Informatics and Telecommunications Engineering ISBN: 9783030734251
ArtsIT

مصطلحات موضوعية: Personhood, Similarity (psychology), Perspective (graphical), Narrative, Performing arts, Psychology, Social constructionism, Object (philosophy), Mixed reality, Cognitive psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::32b068bee9bb8b131f7358b92afe63bc
https://doi.org/10.1007/978-3-030-73426-8_4

المؤلفون: Felix Votava, Zuzana Hrubá, Jan David, Stanislava Kolouskova

المصدر: Minerva pediatrica.

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Newborn screening, education.field_of_study, business.industry, Fludrocortisone, Population, Bone age, Retrospective cohort study, Androgen suppression, medicine.disease, Pediatrics, Perinatology and Child Health, medicine, Congenital adrenal hyperplasia, business, education, Hydrocortisone, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a698abc6faa849dc362eb16c8512927b
https://pubmed.ncbi.nlm.nih.gov/32508077

المؤلفون: Kamila, Réblová, Zuzana, Hrubá, Dagmar, Procházková, Renata, Pazdírková, Slávka, Pouchlá, Jiří, Zeman, Lenka, Fajkusová

المصدر: Clinica Chimica Acta
ICT FP7 Publications Database
OpenAIRE

مصطلحات موضوعية: endocrine system, congenital, hereditary, and neonatal diseases and abnormalities, Genotype, Phenylalanine hydroxylase, In silico, Clinical Biochemistry, Mutation, Missense, Molecular Dynamics Simulation, Biology, medicine.disease_cause, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Hyperphenylalaninemia, Phenylketonurias, medicine, Humans, Missense mutation, Computer Simulation, Gene, Genetic Association Studies, Czech Republic, 030304 developmental biology, Genetics, 0303 health sciences, Mutation, Biochemistry (medical), Computational Biology, nutritional and metabolic diseases, General Medicine, medicine.disease, Phenotype, 3. Good health, biology.protein, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eab9a7e89becefa1562f183965099f6e

المؤلفون: Eva Sťahlová Hrabincová, Lenka Fajkusová, Zuzana Vrzalová, Felix Votava, Stanislava Kolouskova, Slávka Vrábelová, Zuzana Hrubá

المصدر: European Journal of Medical Genetics. 54:112-117

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, endocrine system diseases, Pseudogene, DNA Mutational Analysis, Mutant Chimeric Proteins, Locus (genetics), Chimeric gene, Human leukocyte antigen, Biology, urologic and male genital diseases, Genetic recombination, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Congenital adrenal hyperplasia, Allele, Gene, Genetics (clinical), 030304 developmental biology, Recombination, Genetic, 0303 health sciences, Adrenal Hyperplasia, Congenital, nutritional and metabolic diseases, General Medicine, medicine.disease, Molecular biology, female genital diseases and pregnancy complications, 3. Good health, Czechoslovakia, 030220 oncology & carcinogenesis, Steroid 21-Hydroxylase, Pseudogenes

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20fed56bac19a5d4f7fdef9ae65f6697
https://doi.org/10.1016/j.ejmg.2010.10.005

المؤلفون: Josef Zamecnik, Tat’ána Maříková, Jana Sedláčková, Lenka Fajkusová, Petr Vondráček, Markéta Hermanová, Josef Kraus, Zuzana Hrubá, Petra Hedvicakova, Jana Haberlová, Stanislav Voháňka

المصدر: Neuromuscular Disorders. 19:749-753

مصطلحات موضوعية: Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Duchenne muscular dystrophy, DNA Mutational Analysis, Molecular Sequence Data, Nonsense mutation, Nonsense-mediated decay, Biology, medicine.disease_cause, Dystrophin, 03 medical and health sciences, Exon, 0302 clinical medicine, Gene duplication, medicine, Humans, Point Mutation, RNA, Messenger, Genetics (clinical), Czech Republic, 030304 developmental biology, Genetics, 0303 health sciences, Mutation, Base Sequence, Point mutation, Exons, medicine.disease, Molecular biology, Muscular Dystrophy, Duchenne, Phenotype, Neurology, Pediatrics, Perinatology and Child Health, biology.protein, Female, Neurology (clinical), 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec19514ec9a9ba8caca0e19e920387b0
https://doi.org/10.1016/j.nmd.2009.08.011

المؤلفون: Zuzana Hrubá, Jarmila Skotáková, Petra Konečná, Dagmar Procházková, Lenka Fajkusová

المصدر: Journal of Clinical Research in Pediatric Endocrinology

مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, endocrine system diseases, Wolfram syndrome, phenotype, Endocrinology, Diabetes and Metabolism, genotype, DNA Mutational Analysis, Mutation, Missense, 030209 endocrinology & metabolism, Case Report, 03 medical and health sciences, Megalocornea, 0302 clinical medicine, Endocrinology, Atrophy, Internal medicine, medicine, otorhinolaryngologic diseases, Missense mutation, Humans, Genetic Predisposition to Disease, business.industry, Autosomal dominant trait, nutritional and metabolic diseases, Membrane Proteins, medicine.disease, Wolfram-like syndrome, 3. Good health, Child, Preschool, Pediatrics, Perinatology and Child Health, Failure to thrive, 030221 ophthalmology & optometry, Nephrocalcinosis, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87e3f6f174049ab1f46fe41e014d08c1
http://europepmc.org/articles/PMC5198010

المؤلفون: Stanislava Kolouskova, Felix Votava, Lenka Fajkusová, Eva Hrabincová, Slávka Pouchlá, Zuzana Vrzalová, Zuzana Hrubá

المصدر: International Journal of Molecular Medicine. 26

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Genotype, endocrine system diseases, Chimeric gene, urologic and male genital diseases, medicine.disease_cause, Gene Duplication, Gene duplication, Genetics, medicine, Humans, Point Mutation, Congenital adrenal hyperplasia, Allele, Alleles, Czech Republic, Mutation, Adrenal Hyperplasia, Congenital, biology, Point mutation, 21-Hydroxylase, nutritional and metabolic diseases, General Medicine, medicine.disease, Molecular biology, female genital diseases and pregnancy complications, Phenotype, biology.protein, Steroid 21-Hydroxylase, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10e08e7101bbc1edc1b4d1bfa4b848e5
https://doi.org/10.3892/ijmm_00000504

المؤلفون: Daniela Skálová, Lenka Fajkusová, Zuzana Hrubá, Kristýna Stehlíková

المصدر: Neuromuscular Disorders. 24:883

مصطلحات موضوعية: musculoskeletal diseases, Genetics, 0303 health sciences, Muscle weakness, Biology, medicine.disease, Phenotype, 3. Good health, Dysferlin, 03 medical and health sciences, Exon, 0302 clinical medicine, Neurology, Pediatrics, Perinatology and Child Health, Mutation testing, medicine, biology.protein, Neurology (clinical), medicine.symptom, Muscular dystrophy, Gene, 030217 neurology & neurosurgery, Genetics (clinical), 030304 developmental biology, SGCA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b364a34e87f475431af181d2be5506e8
https://doi.org/10.1016/j.nmd.2014.06.298

المؤلفون: Kamila Réblová, Jiří Zeman, Slávka Pouchlá, Lenka Fajkusová, Dagmar Procházková, Renata Pazdírková, Zuzana Hrubá

المصدر: Clinica Chimica Acta. 426:157

مصطلحات موضوعية: Genetics, Czech, 0303 health sciences, business.industry, In silico, Biochemistry (medical), Clinical Biochemistry, General Medicine, 030204 cardiovascular system & hematology, medicine.disease, Biochemistry, language.human_language, 03 medical and health sciences, 0302 clinical medicine, Hyperphenylalaninemia, language, Medicine, Missense mutation, business, Genotype-Phenotype Correlations, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bf26028c152b602fe00a3388a1ebda7b
https://doi.org/10.1016/j.cca.2013.10.010