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المؤلفون: Biruta Kierdaszuk, Olga Zdończyk, Mateusz Jermakow, Piotr Bienias, Agnieszka Miroszewska, Anna Kostera-Pruszczyk, Magdalena Kaliszewska, Anna Maria Gawałkiewicz, Marta Jaworska, Piotr Pruszczyk
المصدر: Journal of Electrocardiology. 65:136-142
مصطلحات موضوعية: Adult, medicine.medical_specialty, Mitochondrial Diseases, Mitochondrial disease, 030204 cardiovascular system & hematology, QT interval, Electrocardiography, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Repolarization, In patient, cardiovascular diseases, 030212 general & internal medicine, Aged, medicine.diagnostic_test, business.industry, Non invasive, Arrhythmias, Cardiac, Middle Aged, Intraventricular conduction, medicine.disease, cardiovascular system, Cardiology, Cardiology and Cardiovascular Medicine, business, Atrioventricular block
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fa372fad812a396615978b537055356Test
https://doi.org/10.1016/j.jelectrocard.2021.01.021Test -
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المؤلفون: Anna Kostera-Pruszczyk, Joanna Rusecka, Joanna Kosińska, Ewa Bartnik, Biruta Kierdaszuk, Magdalena Kaliszewska, Katarzyna Tońska, Anna Kamińska
المصدر: Genes
Volume 12
Issue 1
Genes, Vol 12, Iss 54, p 54 (2021)مصطلحات موضوعية: Male, 0301 basic medicine, Mitochondrial encephalomyopathy, Ophthalmoplegia, Chronic Progressive External, Mitochondrial Diseases, Gene Expression, Kearns-Sayre Syndrome, TWNK gene, 0302 clinical medicine, Cerebellum, Medicine, Child, Genetics (clinical), Sequence Deletion, Middle Aged, DNA Polymerase gamma, Mitochondria, Pedigree, Female, medicine.symptom, muscle biopsy, RNASEH1 gene, Adult, medicine.medical_specialty, Mitochondrial DNA, Adolescent, lcsh:QH426-470, Mitochondrial disease, Genetic counseling, Ribonuclease H, DNA, Mitochondrial, Article, Ophthalmoparesis, Diagnosis, Differential, Mitochondrial Proteins, multiple mitochondrial DNA deletions, 03 medical and health sciences, mitochondrial disorders, Mitochondrial Encephalomyopathies, POLG gene, Internal medicine, Genetics, Humans, Muscle, Skeletal, Cerebrum, Aged, Polymorphism, Genetic, business.industry, External ophthalmoplegia, DNA Helicases, medicine.disease, progressive external ophthalmoplegia, lcsh:Genetics, 030104 developmental biology, Poland, mitochondrial DNA deletions, business, Chronic progressive external ophthalmoplegia, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f5e9eb9fa21a47ae74a18085f3fdcc0Test
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المؤلفون: Małgorzata Dorobek, Mariusz Ołtarzewski, Ewa Bartnik, Edyta Szymańska, Aleksandra Głowacka, Anna Łusakowska, Elżbieta Ciara, Marta Lipowska, Krystyna H. Chrzanowska, Dorota Piekutowska-Abramczuk, Biruta Kierdaszuk, Katarzyna Tońska, Joanna Pera, Natalia Jurkowska, Jiri Zeman, Małgorzata Rydzanicz, Anna Sulek, Anna Kamińska, Karolina Langiewicz-Wojciechowska, Dariusz Chmielewski, Magdalena Kaliszewska, Marketa Tesarova, Bogdan Brodacki, Paweł Kowalski, Grzegorz Placha, Rafał Płoski, Ewa Jabłońska, Małgorzata Krajewska-Walasek, Joanna Trubicka, Anna Kostera-Pruszczyk, Agnieszka Bakuła, Ewa Pronicka, Dariusz Kuczyński
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Mitochondrial Diseases, Ataxia, Adolescent, Mitochondrial disease, Population, Mutation, Missense, Genes, Recessive, Biology, 03 medical and health sciences, 0302 clinical medicine, Epidemiology, medicine, Humans, Allele, Child, education, Molecular Biology, Allele frequency, Genetics, education.field_of_study, Infant, Newborn, Infant, Diffuse Cerebral Sclerosis of Schilder, Cell Biology, Middle Aged, medicine.disease, DNA Polymerase gamma, 030104 developmental biology, Amino Acid Substitution, Child, Preschool, Cohort, Molecular Medicine, Female, Poland, medicine.symptom, Age of onset, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d39a01306f49659e344165510d03ed2Test
https://ruj.uj.edu.pl/xmlui/handle/item/112814Test -
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المؤلفون: Michał Lower, Ewa Bartnik, Ewa Pronicka, Anna Łusakowska, Aneta Kaniak-Golik, Dorota Sabat, Anna Kamińska, Anna Kostera-Pruszczyk, Jakub Kruszewski, Dorota Lutyk, Magdalena Kaliszewska, Biruta Kierdaszuk, Joel Vizueta, Monika Nojszewska, Pawel Golik, Dorota Piekutowska-Abramczuk, Katarzyna Tońska
المصدر: Human Genetics
مصطلحات موضوعية: DNA Replication, Male, Models, Molecular, Mitochondrial DNA, Mitochondrial Diseases, Saccharomyces cerevisiae Proteins, Adolescent, DNA polymerase, Mitochondrial disease, Molecular Sequence Data, DNA-Directed DNA Polymerase, Saccharomyces cerevisiae, DNA, Mitochondrial, medicine, Genetics, Humans, Point Mutation, Genetics(clinical), Amino Acid Sequence, Allele, Cloning, Molecular, Gene, Genetics (clinical), Alleles, Dominance (genetics), Original Investigation, biology, Point mutation, DNA replication, Infant, Middle Aged, medicine.disease, DNA Polymerase I, Molecular biology, Mitochondria, Pedigree, Phenotype, Child, Preschool, biology.protein, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c480f15fcf565572ab756c31ea951413Test