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1Academic Journal
المؤلفون: Tuuli Mustonen, Ville Sivonen, Sari Atula, Sari Kiuru-Enari, Saku T. Sinkkonen
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
مصطلحات موضوعية: Gelsolin amyloidosis, Automated audiometry, Speech-in-noise, Speech Spatial and Qualities of Hearing Scale, Hearing loss, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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2Academic Journal
المؤلفون: Eeva-Kaisa Schmidt, Tuuli Mustonen, Sari Kiuru-Enari, Tero T. Kivelä, Sari Atula
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-13 (2020)
مصطلحات موضوعية: Gelsolin, Amyloidosis, AGel, Hereditary amyloidosis, Meretoja syndrome, Natural history, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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3
المؤلفون: Miia Holmström, Arttu Holkeri, Sami Pakarinen, Sari Atula, Aapo L. Aro, Sari Kiuru-Enari, Lauri Lehmonen, Tuuli Mustonen
المساهمون: Neurologian yksikkö, HUS Neurocenter, HUS Heart and Lung Center, HUS Medical Imaging Center, Department of Diagnostics and Therapeutics, Clinicum
المصدر: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis. 28(3)
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Finnish gelsolin amyloidosis, Contrast Media, Gadolinium, macromolecular substances, 030204 cardiovascular system & hematology, cardiac magnetic resonance, s disease, Cohort Studies, 03 medical and health sciences, Electrocardiography, 0302 clinical medicine, Internal Medicine, medicine, Meretoja’, Humans, cardiovascular diseases, Finland, Gelsolin, Conduction disease, Aged, conduction disease, Amyloid Neuropathies, Familial, medicine.diagnostic_test, business.industry, Amyloidosis, medicine.disease, Systemic amyloidosis, 3. Good health, 3121 General medicine, internal medicine and other clinical medicine, cardiovascular system, 1182 Biochemistry, cell and molecular biology, 3111 Biomedicine, Cardiac magnetic resonance, business, 030217 neurology & neurosurgery
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4
المؤلفون: Tero Kivelä, Tuuli Mustonen, Eeva-Kaisa Schmidt, Sari Atula, Sari Kiuru-Enari
المساهمون: Department of Neurosciences, Neurologian yksikkö, University of Helsinki, HUS Neurocenter, HUS Head and Neck Center, Department of Ophthalmology and Otorhinolaryngology, Silmäklinikka
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-13 (2020)مصطلحات موضوعية: Male, VARIANT, lcsh:Medicine, FAMILIAL AMYLOIDOSIS, 030204 cardiovascular system & hematology, Meretoja syndrome, Renal amyloidosis, 0302 clinical medicine, Cost of Illness, NEPHROTIC SYNDROME, Pharmacology (medical), Registries, Child, MUTATION, Genetics (clinical), Finland, POPULATION, Paresis, Aged, 80 and over, Corneal Dystrophies, Hereditary, education.field_of_study, Relative survival, Lifespan, Amyloidosis, AGel, LATTICE CORNEAL-DYSTROPHY, 1184 Genetics, developmental biology, physiology, General Medicine, Middle Aged, 3. Good health, Disease Progression, Female, medicine.symptom, Polyneuropathy, Amyloidosis, Familial, Adult, medicine.medical_specialty, Adolescent, Population, Natural history, RENAL AMYLOIDOSIS, 03 medical and health sciences, Young Adult, medicine, Humans, education, Gelsolin, Aged, Amyloid Neuropathies, Familial, business.industry, Research, lcsh:R, FAF, medicine.disease, Dermatology, GENE, Hereditary amyloidosis, POLYNEUROPATHY, business, Nephrotic syndrome, 030217 neurology & neurosurgery, Cutis laxa
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5
المؤلفون: Miia Holmström, Lauri Lehmonen, Touko Kaasalainen, Tuuli Mustonen, Sari Atula
المساهمون: Department of Physics, Department of Diagnostics and Therapeutics, Clinicum, University of Helsinki, HUS Medical Imaging Center, Neurologian yksikkö, HUS Neurocenter, Faculty of Medicine
المصدر: The International Journal of Cardiovascular Imaging
مصطلحات موضوعية: 030204 cardiovascular system & hematology, Ventricular Function, Left, 030218 nuclear medicine & medical imaging, Basal (phylogenetics), 0302 clinical medicine, Extracellular fluid, Medicine, Prospective Studies, Registries, Cardiac imaging, Corneal Dystrophies, Hereditary, T1, medicine.diagnostic_test, Amyloidosis, 3. Good health, Biomechanical Phenomena, medicine.anatomical_structure, Phenotype, Cardiology, HEART, Cardiology and Cardiovascular Medicine, Cardiomyopathies, Extracellular volume, medicine.medical_specialty, Amyloid, Magnetic Resonance Imaging, Cine, FEATURE-TRACKING, 03 medical and health sciences, Tagging, Predictive Value of Tests, Internal medicine, Humans, Radiology, Nuclear Medicine and imaging, Genetic Predisposition to Disease, Gelsolin, Original Paper, business.industry, Myocardium, Magnetic resonance imaging, Stroke Volume, T1 mapping, 3126 Surgery, anesthesiology, intensive care, radiology, medicine.disease, Myocardial Contraction, AL, Feature tracking, Ventricle, Mutation, Ventricular Function, Right, Cardiovascular magnetic resonance, business
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6
المؤلفون: Sari Atula, Pentti J. Tienari, Tuuli Mustonen, Miko Valori, Eeva-Kaisa Schmidt, Sari Kiuru-Enari
المساهمون: Research Programme for Molecular Neurology, Pentti Tienari / Principal Investigator, University of Helsinki, Research Programs Unit, Clinicum, Department of Neurosciences, Neurologian yksikkö, HUS Neurocenter
مصطلحات موضوعية: Male, 0301 basic medicine, RENAL AMYLOIDOSIS, Biology, Polymorphism, Single Nucleotide, Article, Renal amyloidosis, 03 medical and health sciences, 0302 clinical medicine, GSN GENE, NEPHROTIC SYNDROME, Genotype, Genetics, medicine, Humans, G654A, Genotyping, Nuclear family, MUTATION, Finland, Gelsolin, Genetics (clinical), Corneal Dystrophies, Hereditary, Amyloidosis, Haplotype, FAF, 1184 Genetics, developmental biology, physiology, HEREDITARY AMYLOIDOSIS, SUBSTITUTION, MOUSE MODEL, Middle Aged, medicine.disease, Founder Effect, Pedigree, 3. Good health, PATHOLOGY, 030104 developmental biology, Haplotypes, Female, 3111 Biomedicine, 030217 neurology & neurosurgery, Founder effect, SNP array
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