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1دورية أكاديمية
المؤلفون: Monika Turčanová Koprušáková, Milan Grofik, Ema Kantorová, Petra Jungová, Ján Chandoga, Martin Kolisek, Peter Valkovič, Matej Škorvánek, Rafal Ploski, Egon Kurča, Štefan Sivák
المصدر: BMC Neurology, Vol 21, Iss 1, Pp 1-8 (2021)
مصطلحات موضوعية: Charcot-Marie-Tooth 1C, LITAF, Inflammatory neuropathy, Case report, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1471-2377Test
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2دورية أكاديمية
المؤلفون: Jana Lisyová, Ján Chandoga, Petra Jungová, Marcel Repiský, Mária Knapková, Martina Machková, Svetozár Dluholucký, Darina Behúlová, Jana Šaligová, Ľudmila Potočňáková, Miroslava Lysinová, Daniel Böhmer
المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-12 (2018)
مصطلحات موضوعية: Short-chain acyl-CoA dehydrogenase deficiency, Newborn screening, C4-acylcarnitine, Ethylmalonic acid, Frequent pathogenic variants in Slovakia, Roma ethnic group, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12881-018-0566-0Test; https://doaj.org/toc/1471-2350Test
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3دورية أكاديمية
المؤلفون: Jana Konkoľová, Ján Chandoga, Juraj Kováčik, Marcel Repiský, Veronika Kramarová, Ivana Paučinová, Daniel Böhmer
المصدر: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-11 (2017)
مصطلحات موضوعية: Primary hyperoxaluria type 2, GRHPR, Oxalate, Glyoxylate reductase, Hydroxypyruvate reductase, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12881-017-0421-8Test; https://doaj.org/toc/1471-2350Test
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4دورية أكاديمية
المؤلفون: Dominika Hajduchova, Stanislava Suroviakova, Sandra Mersakova, Dusan Brany, Romana Zahumenska, Martin Rehak, Henrieta Skovierova, Slavomíra Nováková, Vladimir Nosal, Juraj Marcinek, Michal Kalman, Martin Jozef Pec, Mariana Brozmanova, Jana Melegova, Stefan Juhas, Jana Juhasova, Hana Studenovska, Barbora Mitruskova, Michal Pokusa, Marek Samec, Matej Samos, Andreas Nicodemou, Lubos Danisovic, Zuzana Dankova, Egon Kurca, Katarina Lexova Kolejakova, Jan Chandoga, Lukas Plank, Erika Halasova, Renata Pecova, Jan Strnadel
المصدر: Stem Cell Research, Vol 71, Iss , Pp 103187- (2023)
مصطلحات موضوعية: Biology (General), QH301-705.5
العلاقة: http://www.sciencedirect.com/science/article/pii/S1873506123001733Test; https://doaj.org/toc/1873-5061Test; https://doaj.org/article/b840dd393efe463882ba1a573dacb2acTest
الإتاحة: https://doi.org/10.1016/j.scr.2023.103187Test
https://doaj.org/article/b840dd393efe463882ba1a573dacb2acTest -
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المؤلفون: Matej Skorvanek, Milan Grofik, Monika Turcanova Koprusakova, Ján Chandoga, Peter Valkovič, Štefan Sivák, Petra Jungová, Martin Kolisek, Egon Kurča, Rafał Płoski, Ema Kantorová
المصدر: BMC Neurology, Vol 21, Iss 1, Pp 1-8 (2021)
BMC Neurologyمصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Pathology, Weakness, Neurology, Necrosis, medicine.medical_treatment, Mutation, Missense, Neural Conduction, LITAF, 03 medical and health sciences, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Case report, medicine, Humans, Neurochemistry, RC346-429, Genetic testing, Neurologic Examination, medicine.diagnostic_test, business.industry, Nuclear Proteins, General Medicine, Immunotherapy, Middle Aged, medicine.disease, Pedigree, Phenotype, 030104 developmental biology, Inflammatory neuropathy, Neurology. Diseases of the nervous system, Neurology (clinical), Neurosurgery, medicine.symptom, business, Polyneuropathy, Charcot-Marie-Tooth 1C, 030217 neurology & neurosurgery, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c40e291358df1b0490887ead1ed4a55Test
https://doi.org/10.1186/s12883-021-02316-3Test -
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المؤلفون: Ján Chandoga, Daniela Gasperikova, Slavomíra Mattošová, Petra Jungová, Miriam Kolnikova, Tomas Foltan, Martina Skopkova
المصدر: Journal of Molecular Neuroscience. 67:559-563
مصطلحات موضوعية: Male, 0301 basic medicine, Biology, complex mixtures, Saposins, 03 medical and health sciences, Cellular and Molecular Neuroscience, Exon, 0302 clinical medicine, Loss of Function Mutation, medicine, Humans, Allele, Gene, Genetics, Prosaposin, Infant, Exons, Leukodystrophy, Metachromatic, General Medicine, medicine.disease, Null allele, Phenotype, Metachromatic leukodystrophy, 030104 developmental biology, Krabbe disease, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d6e1a3dd28fd631230c49c02c209ce4Test
https://doi.org/10.1007/s12031-019-1259-7Test -
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المؤلفون: Małgorzata Stępień-Wojno, Dorota Rowczenio, Anna Kostera-Pruszczyk, Robert Petrovic, Joanna Brydak-Godowska, Jacek Grzybowski, Ján Chandoga, Marta Lipowska, Monika Gawor, Agnieszka Ptasińska-Perkowska, Hanna Drac, Philip N. Hawkins, Janusz Szewczuk, Maria Franaszczyk, Anetta Lasek-Bal, Renata Śmierciak, Janet A. Gilbertson
المصدر: Neurologia i neurochirurgia polska. 54(6)
مصطلحات موضوعية: endocrine system, medicine.medical_specialty, Pediatrics, Neurology, Late onset, Medicine, Humans, Prealbumin, Amyloid Neuropathies, Familial, biology, business.industry, Amyloidosis, nutritional and metabolic diseases, Middle Aged, medicine.disease, Phenotype, Middle age, Transthyretin, Mutation (genetic algorithm), Mutation, biology.protein, Surgery, Neurology (clinical), Poland, Presentation (obstetrics), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fde596b492d1b50f293666118a4eef0cTest
https://pubmed.ncbi.nlm.nih.gov/33373035Test -
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المؤلفون: Ján Chandoga, Petra Jungová, Jana Lisyová, Daniel Bӧhmer, P. Ďurina, Veronika Kramarová, Andrea Čumová
المصدر: Neurocase. 24:227-230
مصطلحات موضوعية: Adult, 0301 basic medicine, Psychosis, Pediatrics, medicine.medical_specialty, Bipolar Disorder, Fever, business.industry, Chromosomes, Human, Pair 22, Chromosome Disorders, medicine.disease, Genetic Condition, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Arts and Humanities (miscellaneous), Phelan-McDermid syndrome, Humans, Medicine, Female, Neurology (clinical), Chromosome Deletion, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b01d85869b3362a87da00570dccaf6d3Test
https://doi.org/10.1080/13554794.2018.1542007Test -
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المؤلفون: D Urbanova, Robert Petrovic, Katarina Jurickova, Katarina Brennerova, D. Behulova, Jana Lisyová, Ján Chandoga, Vladimir Bzduch
المصدر: Bratislava Medical Journal. 117:631-638
مصطلحات موضوعية: Male, 0301 basic medicine, Slovakia, Economics and Econometrics, Genotype, Population, Mutation, Missense, Disease, Glutaric acid, Asymptomatic, Gas Chromatography-Mass Spectrometry, Glutarates, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Genotype-phenotype distinction, Carnitine, Materials Chemistry, Media Technology, medicine, Humans, education, Amino Acid Metabolism, Inborn Errors, Genetics, Newborn screening, education.field_of_study, Base Sequence, Glutaryl-CoA Dehydrogenase, Brain Diseases, Metabolic, business.industry, Glutaric aciduria, Infant, Newborn, Forestry, Hydroxylysine, Early Diagnosis, Phenotype, 030104 developmental biology, chemistry, Female, medicine.symptom, business, Sequence Analysis, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b987e167a734d68e49e4d0512a0b46eTest
https://doi.org/10.4149/bll_2016_123Test -
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المؤلفون: Daniel Böhmer, Braxatorisová T, Andrea Pastorakova, Jan Luha, D Chandogova, M Juhosova, S Reznakova, Robert Petrovic, Ján Chandoga, J. Malová
المصدر: Neoplasma. 64:962-970
مصطلحات موضوعية: 0301 basic medicine, Slovakia, Cancer Research, Genotype, Population, Biology, Thymidylate synthase, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Tandem repeat, Humans, SNP, Allele, Promoter Regions, Genetic, education, Gene, Allele frequency, Genetics, education.field_of_study, Polymorphism, Genetic, Thymidylate Synthase, Europe, Genetics, Population, 030104 developmental biology, Oncology, 030220 oncology & carcinogenesis, biology.protein, Pharmacogenetics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaf7d1113c1a5006a37159cacf1a8fd0Test
https://doi.org/10.4149/neo_2017_620Test