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المؤلفون: Vinojini Vivekanandam, Roope Männikkö, Iwona Skorupinska, Louise Germain, Belinda Gray, Sarah Wedderburn, Damian Kozyra, Richa Sud, Natalie James, Sarah Holmes, Konstantinos Savvatis, Doreen Fialho, Ashirwad Merve, Jatin Pattni, Maria Farrugia, Elijah R Behr, Chiara Marini-Bettolo, Michael G Hanna, Emma Matthews
المصدر: Brain. 145:2108-2120
مصطلحات موضوعية: Andersen Syndrome, Electrocardiography, Phenotype, Mutation, Humans, Genetic Testing, Neurology (clinical), Morbidity
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b9cecda6fd9df64264ca0885fddd89cTest
https://doi.org/10.1093Test/brain /awab445 -
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المؤلفون: Dimitri M. Kullmann, Mary G. Sweeney, Andrea Haworth, Richa Sud, S. McCall, Roope Männikkö, K. Suetterlin, Dipa Jayaseelan, Emma Matthews, James Burge, Stephanie Schorge, Doreen Fialho, Michael G. Hanna
المصدر: Brain. 145:607-620
مصطلحات موضوعية: Proband, CLCN1, Myotonia Congenita, biology, Myotonia congenita, Genetic counseling, Inheritance (genetic algorithm), Computational biology, medicine.disease, Myotonia, Phenotype, Chloride Channels, Mutation, biology.protein, medicine, Humans, Neurology (clinical), Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a76a7b88fa5905d1062ef0d1c63167a0Test
https://doi.org/10.1093Test/brain /awab344 -
3
المؤلفون: Gavin Hudson, Hanns Lochmüller, Fabrizio Salvi, Anu Suomalainen, Johannes A. Mayr, Patrick F. Chinnery, Eleonora Lamantea, N Futterer, Roger D. Santer, Robert McFarland, M Zeviani, Marketa Tesarova, Peter Freisinger, Doreen Fialho, Robert W. Taylor, Michael G. Hanna, Jiri Zeman, Gianfrancesco Ferrari, Douglass M. Turnbull, Holger Prokisch, Sofia Ahola, Ramesh, Thomas Klopstock, Bjarne Udd, Rita Horvath
المصدر: Brain. 129:1674-1684
مصطلحات موضوعية: Male, Ophthalmoplegia, Chronic Progressive External, Mitochondrial Diseases, DNA-Directed DNA Polymerase, DGUOK, medicine.disease_cause, Compound heterozygosity, Nervous System, Genotype-phenotype distinction, Gene Frequency, Age of Onset, Child, Polymerase, Genetics, Mutation, Ophthalmoplegia, mtDNA, Polymerase gamma, Middle Aged, Mitochondrial DNA, Mitochondrial, DNA Polymerase gamma, Phenotype, Child, Preschool, Heredodegenerative Disorders, Nervous System, Female, Heredodegenerative Disorders, Adult, Adolescent, Biology, DNA, Mitochondrial, Sex Factors, Mitochondrial Encephalomyopathies, Chronic progressive external ophthalmoplegia, medicine, Humans, Preschool, Gene, Infant, Diffuse Cerebral Sclerosis of Schilder, DNA, medicine.disease, Alpers syndrome, Chronic Progressive External, biology.protein, Neurology (clinical), Mitochondrial encephalopathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e0f92a355a84325e90148b09a87db33Test
https://doi.org/10.1093Test/brain /awl088