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المؤلفون: Marie Rivera-Zengotita, Alison M. Barnard, Sanna Puusepp, Anna Łusakowska, Ros Quinlivan, Margherita Milone, Isabelle Draper, Katherine R. Chao, Erica L. Macke, Mait Nigul, Teepu Siddique, Vijay S. Ganesh, Sander Pajusalu, Nicolas Deconinck, Sanna Gudmundsson, Masashi Ogasawara, Sandra Donkervoort, Christine C. Bruels, Glenn A. Walter, Ehsan Ghayoor Karimiani, Christina A. Pacak, Reza Maroofian, Sabine Costagliola, Julia K. Goodrich, Anne H. O’Donnell-Luria, Mehran Beiraghi Toosi, Sandra Coppens, Yao Meng, Lynn Pais, Henry Houlden, Eleina M. England, Rasha El Sherif, Anne Boland-Auge, Bertold Schrank, Volker Straub, Gisèle Bonne, Catheline Vilain, Payam Mohassel, Tanya Stojkovic, Isabelle Nelson, Ichizo Nishino, Stefan Nicolau, Anna Kostera-Pruszczyk, Ben Weisburd, Jean-François Deleuze, Enzo Cohen, Michael G. Hanna, Hazim Kadhim, Peter B. Kang, Dorianmarie Vargas-Franco, Penny A. Handford, Katrin Õunap, Pilvi Ilves, Ana Töpf, Carsten G. Bönnemann, Brendan C. Lanpher, Eric W. Klee, Andreas Hahn
المصدر: The American Journal of Human Genetics
Am J Hum Genetمصطلحات موضوعية: Male, Models, Molecular, 0301 basic medicine, Muscular Dystrophies, Myoblasts, Mice, 0302 clinical medicine, Drosophila Proteins, Muscular dystrophy, Child, Genetics (clinical), Genetics, Receptors, Notch, Myogenesis, Muscles, Middle Aged, Pedigree, Drosophila melanogaster, Phenotype, medicine.anatomical_structure, Glucosyltransferases, Child, Preschool, Female, Jagged-2 Protein, medicine.symptom, Signal Transduction, Adult, JAG2, JAG1, Adolescent, Notch signaling pathway, Biology, Article, Cell Line, Frameshift mutation, Young Adult, 03 medical and health sciences, Exome Sequencing, medicine, Animals, Humans, Amino Acid Sequence, Correction, Membrane Proteins, Muscle weakness, Skeletal muscle, medicine.disease, Human genetics, 030104 developmental biology, Haplotypes, Jagged-1 Protein, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de5cf77949f159f13e3db961570ab30bTest
https://doi.org/10.1016/j.ajhg.2021.03.020Test -
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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