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المؤلفون: Andreas Laner, Ales Maver, Johan T. den Dunnen
المصدر: Human Mutation. 43:973-975
مصطلحات موضوعية: Phenotype, Genome, Human, Mutation, Genetics, Humans, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9d40d0dceabc955ff087b845aca6928Test
https://doi.org/10.1002/humu.24429Test -
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المؤلفون: Andreas Laner, Ales Maver, Johan T. den Dunnen
المصدر: Human Mutation. 43
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ef09e45c1c367dde6b1168baae698c7bTest
https://doi.org/10.1002/humu.24442Test -
3
المؤلفون: Anna Benet-Pagès, Florentine Scharf, Angela Abicht, Isabel Diebold, Andreas Laner, Ulrike Schön, Elke Holinski-Feder
المصدر: Human Mutation
مصطلحات موضوعية: Male, primary arrhythmia syndromes, medicine.medical_specialty, Long QT syndrome, Genomics, Disease, Biology, Gene mutation, Bioinformatics, Catecholaminergic polymorphic ventricular tachycardia, Ryanodine receptor 2, 03 medical and health sciences, Databases, Genetic, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, variant classification, Genetics (clinical), Alleles, Genetic Association Studies, Research Articles, 030304 developmental biology, Brugada syndrome, 0303 health sciences, variant interpretation, 030305 genetics & heredity, Genetic Variation, High-Throughput Nucleotide Sequencing, Arrhythmias, Cardiac, Syndrome, medicine.disease, ddc, Phenotype, secondary findings, Medical genetics, Female, actionable genes, cardiac channelopathy genes, Research Article
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb35a8122c5e1d49ae3dfd6d10c3f066Test
https://pubmed.ncbi.nlm.nih.gov/32048431Test -
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المؤلفون: Mário Sousa, Julie Rath, Manuela M. Santos, Jorge Oliveira, Emília Vieira, Márcia E. Oliveira, Thomas L. Winder, Angela Gruber, T. Lourenço, José Pedro Vieira, Rosário Santos, Luciano Almendra, I. Fineza, Ana L. Gonçalves, Jocelyn Schroeder, Teresa Coelho, A. Sousa, Manuel Melo-Pires, Johan T. den Dunnen, Márcio Cardoso, Andreas Laner, Luís Negrão, Ricardo Taipa
المصدر: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAPمصطلحات موضوعية: 0301 basic medicine, Genotype, HDE GEN, HDE NEU PED, Gene mutation, Biology, Bioinformatics, Muscular Dystrophies, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Genetics, medicine, Missense mutation, Humans, Muscular dystrophy, Genetics (clinical), Alleles, Genetic Association Studies, Muscle weakness, Brain, Computational Biology, Genetic Variation, medicine.disease, Immunohistochemistry, Magnetic Resonance Imaging, 030104 developmental biology, Variome, Neonatal hypotonia, Phenotype, Failure to thrive, Mutation, Congenital muscular dystrophy, Laminin, medicine.symptom, Databases, Nucleic Acid, 030217 neurology & neurosurgery, Biomarkers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c04cd6b5e71af867bcdbbbc92a1fd80dTest
https://pubmed.ncbi.nlm.nih.gov/30055037Test