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1دورية أكاديمية
المؤلفون: Jiri Gurka, Lenka Piherova, Filip Majer, Anna Chaloupka, Daniela Zakova, Ondrej Pelak, Alice Krebsova, Petr Peichl, Jan Krejci, Tomas Freiberger, Vojtech Melenovsky, Josef Kautzner, Tomas Kalina, Jakub Sikora, Milos Kubanek
المصدر: ESC Heart Failure, Vol 7, Iss 5, Pp 2534-2543 (2020)
مصطلحات موضوعية: Advanced heart failure, Danon disease, Lysosomal‐associated membrane protein type 2, Screening, White blood cells, Diseases of the circulatory (Cardiovascular) system, RC666-701
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2055-5822
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2
المؤلفون: Michal Schmalz, Hana Vankova, Silvie Rajnochova-Bloudickova, Petra Hruba, Martina Fialova, Jiri Gurka, Maria Magicova, Ilja Striz, Ivan Zahradka, Ondrej Viklicky
المصدر: International Urology and Nephrology.
مصطلحات موضوعية: Nephrology, Urology
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3
المؤلفون: Maria Magicova, Ivan Zahradka, Martina Fialova, Tomas Neskudla, Jiri Gurka, Istvan Modos, Michal Hojny, Petr Raska, Petr Smejkal, Ilja Striz, Ondrej Viklicky
المصدر: Transplantation. 106(4)
مصطلحات موضوعية: Transplantation, Vaccines, Synthetic, SARS-CoV-2, Immunity, COVID-19, Humans, Prospective Studies, mRNA Vaccines, Antibodies, Viral, Kidney Transplantation, Transplant Recipients
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::866297fb4331da0b3150e008faec2f21
https://pubmed.ncbi.nlm.nih.gov/34999659 -
4
المؤلفون: Alice Krebsová, Vojtech Melenovsky, Lenka Piherová, Petr Peichl, Ondrej Pelak, Jakub Sikora, Tomáš Freiberger, Filip Majer, Daniela Zakova, Anna Chaloupka, Jiri Gurka, Josef Kautzner, Jan Krejčí, Tomas Kalina, Milos Kubanek
المصدر: ESC Heart Failure, Vol 7, Iss 5, Pp 2534-2543 (2020)
مصطلحات موضوعية: medicine.medical_specialty, Advanced heart failure, medicine.medical_treatment, Cardiomyopathy, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, Lysosomal-Associated Membrane Protein 2, Internal medicine, medicine, Diseases of the circulatory (Cardiovascular) system, Humans, Danon disease, Lysosomal‐associated membrane protein type 2, Exome sequencing, 030304 developmental biology, Heart Failure, 0303 health sciences, business.industry, Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic, medicine.disease, Glycogen Storage Disease Type IIb, 3. Good health, Phenotype, RC666-701, Ventricular assist device, Heart failure, Cohort, Screening, Etiology, White blood cells, Female, Cardiology and Cardiovascular Medicine, business
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5
المؤلفون: Petra Liskova, Filip Majer, Alice Krebsová, Jiri Gurka, Tomas Palecek, Jakub Sikora, Tomas Kalina, Lenka Dvorakova, Lenka Piherová, Bohdan Kousal, Veronika Stará, Hana Vlaskova, Michel Michaelides, Milos Kubanek, Hana Langrová, Martin Meliska
المصدر: Acta Ophthalmologica. 99:61-68
مصطلحات موضوعية: Adult, medicine.medical_specialty, Somatic cell, Visual Acuity, Cardiomyopathy, Retinal Pigment Epithelium, Disease, Asymptomatic, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Lysosomal-Associated Membrane Protein 2, Electroretinography, medicine, Humans, Danon disease, LAMP2, business.industry, Pigmentary Retinopathy, General Medicine, medicine.disease, Dermatology, Glycogen Storage Disease Type IIb, Pedigree, Ophthalmology, Gene Expression Regulation, 030221 ophthalmology & optometry, RNA, Female, Visual field loss, medicine.symptom, business, Retinitis Pigmentosa, Tomography, Optical Coherence, 030217 neurology & neurosurgery
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المؤلفون: Milos Kubanek, Lenka Piherová, Martin Reboun, Hana Vlaskova, Tomas Kalina, Bohdan Kousal, Lenka Dvorakova, Stanislav Kmoch, Jiri Gurka, Filip Majer, Romana Mihalova, Jana Krihova, Petr Dusek, Alice Krebsová, Petra Liskova, Jakub Sikora
المصدر: American Journal of Medical Genetics Part A. 182:219-223
مصطلحات موضوعية: Genetics, LAMP2, Biology, medicine.disease, Phenotype, Asymptomatic, Membrane protein, medicine, Danon disease, Copy-number variation, CUL4B, medicine.symptom, Gene, Genetics (clinical)
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7
المؤلفون: Filip, Majer, Bohdan, Kousal, Petr, Dusek, Lenka, Piherova, Martin, Reboun, Romana, Mihalova, Jiri, Gurka, Alice, Krebsova, Hana, Vlaskova, Lenka, Dvorakova, Jana, Krihova, Petra, Liskova, Stanislav, Kmoch, Tomas, Kalina, Milos, Kubanek, Jakub, Sikora
المصدر: American journal of medical genetics. Part AREFERENCES. 182(1)
مصطلحات موضوعية: Adult, Male, DNA Copy Number Variations, Myocardium, Exons, Cullin Proteins, Glycogen Storage Disease Type IIb, Alu Elements, Loss of Function Mutation, X Chromosome Inactivation, Lysosomal-Associated Membrane Protein 2, Mental Retardation, X-Linked, Humans, Female, Chromosome Deletion, Sodium-Potassium-Exchanging ATPase, Cardiomyopathies, Transcription Factors
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المؤلفون: M. Hrebicek, Dita Musalkova, Tomas Honzik, Milan Jirsa, Magdalena Neroldova, Lenka Dvorakova, Jakub Krijt, Jiri Zeman, Jiri Gurka, Eva Sticova, Martin Reboun, Jitka Honzikova, Jitka Sokolová
المصدر: Virchows Archiv : an international journal of pathology. 472(6)
مصطلحات موضوعية: 0301 basic medicine, Male, Heterozygote, Genotype, Biopsy, Ornithine transcarbamylase, Biology, medicine.disease_cause, X-inactivation, Pathology and Forensic Medicine, 03 medical and health sciences, Glutamate-Ammonia Ligase, X Chromosome Inactivation, Glutamine synthetase, medicine, Humans, Molecular Biology, X chromosome, Ornithine Carbamoyltransferase, Mutation, Chromosomes, Human, X, Sex Characteristics, Hyperammonemia, Cell Biology, General Medicine, medicine.disease, Molecular biology, Ornithine Carbamoyltransferase Deficiency Disease, 030104 developmental biology, Liver, DNA methylation, Female