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1دورية أكاديمية
المؤلفون: Andreas J. Hülsmeier, Sandra P. Toelle, Peter Bellstedt, Christian Wentzel, Angela Bahr, Konstantinos Kolokotronis, Thorsten Hornemann
المصدر: Journal of Lipid Research, Vol 64, Iss 12, Pp 100464- (2023)
مصطلحات موضوعية: Sphingolipids, DEGS1, hypomyelinating leukodystrophy, sphingolipidosis, HLD18, biomarker, Biochemistry, QD415-436
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Konstantinos Kolokotronis, Natalie Pluta, Eva Klopocki, Erdmute Kunstmann, Daniel Messroghli, Christoph Maack, Shai Tejman-Yarden, Michael Arad, Simone Rost, Brenda Gerull
المصدر: Journal of Clinical Medicine, Vol 9, Iss 7, p 2168 (2020)
مصطلحات موضوعية: cardiomyopathy, cardiogenetics, whole exome sequencing, targeted gene panel, candidate genes, Medicine
وصف الملف: electronic resource
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المؤلفون: Elena Martín-Hernández, Michio Inoue, Kimberly Y. Lin, Allan M. Glanzman, Janbernd Kirschner, Eleonora Guadagnin, Lynn A. Megeney, David Schorling, Osorio Lopes Abath Neto, Patrick G. Burgon, Aurelio Hernández-Laín, Francisco Martínez-Azorín, Uta Lichter-Konecki, Ichizo Nishino, Gihan Tennekoon, Véronique Bolduc, Ying Hu, Linford Williams, Justin H Berger, John F. Brandsema, Livija Medne, María Elena Rodríguez-García, Konstantinos Kolokotronis, Carsten G. Bönnemann, S. Borell, Francisco Javier Cotrina-Vinagre, Brenda Banwell, A. Reghan Foley, Hirofumi Komaki, Mariarita Santi, Sandra Donkervoort
المصدر: Brain
مصطلحات موضوعية: myalgia, Male, medicine.medical_specialty, Adolescent, Cardiomyopathy, Cellular homeostasis, Rhabdomyolysis, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Muscular Diseases, Internal medicine, medicine, Humans, Myopathy, Child, Creatine Kinase, 030304 developmental biology, Aged, 80 and over, 0303 health sciences, Muscle Weakness, hyperCKemia, business.industry, Skeletal muscle, Genetic Variation, Nuclear Proteins, Original Articles, Myalgia, medicine.disease, medicine.anatomical_structure, Endocrinology, Child, Preschool, rhabdomyolysis, MLIP, Female, Neurology (clinical), medicine.symptom, business, cardiomyopathy, Co-Repressor Proteins, 030217 neurology & neurosurgery, Homeostasis, Lamin, myopathy
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fef5c2d3849877669948dbd4ea95014
https://pubmed.ncbi.nlm.nih.gov/35915960 -
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المؤلفون: Brenda Gerull, Anna Janz, Katharina Walz, Albert Busch, Konstantinos Kolokotronis, Tatjana Williams, Simone Rost, Anne Kilinç, Alexandra Cirnu
المصدر: Circulation: Genomic and Precision Medicine. 14
مصطلحات موضوعية: biology, business.industry, biology.protein, Cancer research, Medicine, General Medicine, Aneurysm dissecting, business, Cardiac phenotype, Elastin, Novel mutation
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::00ea59478ae415dcac2373770f8a49f7
https://doi.org/10.1161/circgen.120.003217 -
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المؤلفون: Ann-Kathrin Zaum, Hans-Hilmar Goebel, Simone Rost, Konstantinos Kolokotronis, Jürgen Seeger, Wolfram Kress
المصدر: Neuromuscular Disorders. 28:671-674
مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Genotype, DNA Mutational Analysis, Alpha (ethology), Biology, 03 medical and health sciences, Exon, 0302 clinical medicine, Glycosyltransferase, medicine, Humans, Pentosyltransferases, Dystroglycans, Genetics (clinical), Genetics, Muscle biopsy, medicine.diagnostic_test, Membrane Proteins, Walker-Warburg Syndrome, medicine.disease, Phenotype, 030104 developmental biology, Neurology, Mutation, Pediatrics, Perinatology and Child Health, RNA splicing, Mutation (genetic algorithm), Congenital muscular dystrophy, biology.protein, Neurology (clinical), 030217 neurology & neurosurgery
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المؤلفون: Stephan Schubert, Daniel Messroghli, Nadya Al-Wakeel-Marquard, Giulia Mearini, Christopher Herbst, F. Degener, Dieter Beule, Felix Berger, Juliane Hardt, Brenda Gerull, Manuel Holtgrewe, Konstantinos Kolokotronis, Anwar Baban, Lucie Carrier, Jirko Kühnisch, Josephine Dartsch, Sabine Klaassen
مصطلحات موضوعية: Oncology, TNNI3, Primary cardiomyopathy, medicine.medical_specialty, business.industry, Internal medicine, medicine, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::14230cf647a26289d64c03173e486cf3
https://doi.org/10.1111/cge.13645/v2/response1 -
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المؤلفون: Stefan Störk, Eva Klopocki, Giulia Mearini, Cathleen Huculak, Josephine Dartsch, Simone Rost, Brenda Gerull, Konstantinos Kolokotronis, Jirko Kühnisch, Lucie Carrier, Sabine Klaassen
المصدر: Human Mutation.
مصطلحات موضوعية: Adult, Male, Biallelic Mutation, Adolescent, Mutation, Missense, Haploinsufficiency, Biology, Compound heterozygosity, Young Adult, 03 medical and health sciences, Loss of Function Mutation, Genetics, Humans, Missense mutation, Allele, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Isolated Noncompaction of the Ventricular Myocardium, Myosin Heavy Chains, 030305 genetics & heredity, Infant, Cardiomyopathy, Hypertrophic, Left ventricular noncompaction cardiomyopathy, Penetrance, Pedigree, Phenotype, Heart Transplantation, Left ventricular noncompaction, Female, Carrier Proteins, Cardiac Myosins
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المؤلفون: F. Degener, Anwar Baban, Giulia Mearini, Nadya Al-Wakeel-Marquard, Manuel Holtgrewe, Daniel Messroghli, Josephine Dartsch, Christopher Herbst, Felix Berger, Stephan Schubert, Lucie Carrier, Dieter Beule, Juliane Hardt, Sabine Klaassen, Jirko Kühnisch, Brenda Gerull, Konstantinos Kolokotronis
مصطلحات موضوعية: 0301 basic medicine, Male, Cardiomyopathy, 030105 genetics & heredity, Bioinformatics, medicine.disease_cause, Cohort Studies, Medicine, genetics, Child, Genetics (clinical), Mutation, medicine.diagnostic_test, High-Throughput Nucleotide Sequencing, Pedigree, Up-Regulation, Phenotype, Kinderheilkunde, Child, Preschool, Cohort, Female, Technology Platforms, Cardiomyopathies, 600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::610 Medizin und Gesundheit, Adolescent, Genotype, pediatrics, TNNI3, Herzmuskelkrankheit, Primary cardiomyopathy, 03 medical and health sciences, Fetus, Humans, Family, ddc:610, RNA, Messenger, Genetik, Gene, Genetic testing, business.industry, Troponin I, Infant, Newborn, Infant, medicine.disease, carbohydrates (lipids), 610 Medizin, Gesundheit, 030104 developmental biology, Gene Expression Regulation, Cardiovascular and Metabolic Diseases, MYH7, sarcomere, business, cardiomyopathy
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2151ba6ef3c3621d91931f5a3654386
https://refubium.fu-berlin.de/handle/fub188/34080 -
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المصدر: Journal of Nano Research. 6:157-168
مصطلحات موضوعية: Solvent, Crystallography, chemistry.chemical_compound, Aqueous solution, Lattice constant, Materials science, chemistry, Chemical engineering, Scanning electron microscope, Hexagonal pyramid, Polyethylene glycol, Hydrothermal circulation, Amorphous solid
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