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Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease

Immunohistochemistry / Risk assessment / Heart Failure / Humans / Female / Male / Heart / Differential Diagnosis / Pedigree / Fabry Disease / Middle Aged / Adult / Survival Rate / Prognosis / Disease Progression / Risk Assessment / Cardiomyopathies / Male / Heart / Differential Diagnosis / Pedigree / Fabry Disease / Middle Aged / Adult / Survival Rate / Prognosis / Disease Progression / Risk Assessment / Cardiomyopathies

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Peripartum Cardiomyopathy as a Part of Familial Dilated Cardiomyopathy

Genetics / Pregnancy / Humans / Genetic Testing / Female / Pedigree / Dilated cardiomyopathy / Clinical Sciences / Spectrum / Adult / Glutamine / Myocardium / Public health systems and services research / Circulation / Arginine / Cardiomyopathies / Amino Acid Sequence / Base Sequence / Pedigree / Dilated cardiomyopathy / Clinical Sciences / Spectrum / Adult / Glutamine / Myocardium / Public health systems and services research / Circulation / Arginine / Cardiomyopathies / Amino Acid Sequence / Base Sequence

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Familial supravalvular aortic stenosis: a genetic study

Genetics / Medical Genetics / Adolescent / Electrocardiography / Echocardiography / Biological Sciences / High Frequency / Prospective studies / Humans / Child / Aortic stenosis / Female / Male / Infant / Pedigree / Aged / Middle Aged / Adult / Retrospective Studies / Prospective Study / Child preschool / Biological Sciences / High Frequency / Prospective studies / Humans / Child / Aortic stenosis / Female / Male / Infant / Pedigree / Aged / Middle Aged / Adult / Retrospective Studies / Prospective Study / Child preschool

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Clinical quiz: a family\'s name for a familial disease

Electrocardiography / Humans / Male / Pedigree / Adult / Brugada Syndrome

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Iatrogenic melanoma. Comment on: Melanoma epidemic: a midsummer night’s dream?

Epidemiology / Cancer / Dermatology / Humans / Melanoma / Incidence / Pedigree / Clinical Sciences / Neoplasm Invasiveness / Disease Progression / Stage / Skin Neoplasms / Incidence / Pedigree / Clinical Sciences / Neoplasm Invasiveness / Disease Progression / Stage / Skin Neoplasms

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Iatrogenic melanoma. Comment on: Melanoma epidemic: a midsummer night’s dream?

Epidemiology / Cancer / Dermatology / Humans / Melanoma / Incidence / Pedigree / Clinical Sciences / Neoplasm Invasiveness / Disease Progression / Stage / Skin Neoplasms / Incidence / Pedigree / Clinical Sciences / Neoplasm Invasiveness / Disease Progression / Stage / Skin Neoplasms

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A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain

Immunohistochemistry / Protein Dynamics / Dyslexia / Multidisciplinary / Developmental dyslexia / Brain / Humans / Female / Male / Glial Cell / Social Environment / Pedigree / Human Brain / Protein Interaction / White matter / Base Sequence / Protein Localization / Translation initiation / Gene Expression Regulation / Molecular Sequence Data / Brain / Humans / Female / Male / Glial Cell / Social Environment / Pedigree / Human Brain / Protein Interaction / White matter / Base Sequence / Protein Localization / Translation initiation / Gene Expression Regulation / Molecular Sequence Data

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Lipoid proteinosis: a case series from Istanbul

Epilepsy / Turkey / Dermatology / Adolescent / Temporal Lobe / Humans / Child / Female / Male / Skin / Pedigree / Clinical Sciences / Adult / Public health systems and services research / Consanguinity / Body Height / Humans / Child / Female / Male / Skin / Pedigree / Clinical Sciences / Adult / Public health systems and services research / Consanguinity / Body Height

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Biomarker discovery by plasma proteomics in familial Brugada Syndrome

Proteomics / Electrocardiography / Humans / Female / Male / Tandem Mass Spectrometry / Pedigree / Biological markers / Two-Dimensional Gel Electrophoresis / Two dimensional Gel Electrophoresis / Proteome / Brugada Syndrome / Prothrombin / Alpha-1 Antitrypsin / Biochemistry and cell biology / Tandem Mass Spectrometry / Pedigree / Biological markers / Two-Dimensional Gel Electrophoresis / Two dimensional Gel Electrophoresis / Proteome / Brugada Syndrome / Prothrombin / Alpha-1 Antitrypsin / Biochemistry and cell biology

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Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease

Immunohistochemistry / Risk assessment / Heart Failure / Humans / Female / Male / Heart / Differential Diagnosis / Pedigree / Fabry Disease / Middle Aged / Adult / Survival Rate / Prognosis / Left ventricular hypertrophy / Disease Progression / Risk Assessment / Cardiomyopathies / Male / Heart / Differential Diagnosis / Pedigree / Fabry Disease / Middle Aged / Adult / Survival Rate / Prognosis / Left ventricular hypertrophy / Disease Progression / Risk Assessment / Cardiomyopathies

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Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease

Immunohistochemistry / Risk assessment / Heart Failure / Humans / Female / Male / Heart / Differential Diagnosis / Pedigree / Fabry Disease / Middle Aged / Adult / Survival Rate / Prognosis / Left ventricular hypertrophy / Disease Progression / Risk Assessment / Cardiomyopathies / Male / Heart / Differential Diagnosis / Pedigree / Fabry Disease / Middle Aged / Adult / Survival Rate / Prognosis / Left ventricular hypertrophy / Disease Progression / Risk Assessment / Cardiomyopathies

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Chromosome 3 linked frontotemporal dementia (FTD-3)

Cognitive Science / Neurology / Dementia / Magnetic Resonance Imaging / Denmark / Temporal Lobe / Brain / Humans / Cerebral Cortex / Female / Male / Pedigree / Clinical Sciences / Middle Aged / Autopsy / Single Photon Emission Computed Tomography / Parietal Lobe / Blood Flow / Frontotemporal Dementia / X ray Computed Tomography / Cerebral Blood Flow / Neurosciences / Frontal Lobe / Tissue Fixation / Age at Onset / Neuropsychological Tests / Temporal Lobe / Brain / Humans / Cerebral Cortex / Female / Male / Pedigree / Clinical Sciences / Middle Aged / Autopsy / Single Photon Emission Computed Tomography / Parietal Lobe / Blood Flow / Frontotemporal Dementia / X ray Computed Tomography / Cerebral Blood Flow / Neurosciences / Frontal Lobe / Tissue Fixation / Age at Onset / Neuropsychological Tests

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Cardiac amyloidosis: a review and report of a new transthyretin (prealbumin) variant

Genetics / Immunohistochemistry / Electrocardiography / Heart Failure / Humans / Male / Heart / Pedigree / Middle Aged / Electrophoresis / Arrhythmia / Cardiomyopathies / Indexation / Amino Acid Sequence / Amino Acid Substitution Rates / Immunoglobulin / Amyloidosis / Nucleotides / Molecular Sequence Data / Male / Heart / Pedigree / Middle Aged / Electrophoresis / Arrhythmia / Cardiomyopathies / Indexation / Amino Acid Sequence / Amino Acid Substitution Rates / Immunoglobulin / Amyloidosis / Nucleotides / Molecular Sequence Data

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Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease

Immunohistochemistry / Risk assessment / Heart Failure / Humans / Female / Male / Heart / Differential Diagnosis / Pedigree / Fabry Disease / Middle Aged / Adult / Survival Rate / Prognosis / Left ventricular hypertrophy / Disease Progression / Risk Assessment / Cardiomyopathies / Male / Heart / Differential Diagnosis / Pedigree / Fabry Disease / Middle Aged / Adult / Survival Rate / Prognosis / Left ventricular hypertrophy / Disease Progression / Risk Assessment / Cardiomyopathies

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Familial severe twenty-nail dystrophy

Humans / Female / Male / Pedigree / Clinical Sciences / Adult / Nails / The American / Adult / Nails / The American

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Familial isolated primary hyperparathyroidism associated with vitamin D deficiency

Engineering / Biological Sciences / Humans / Bone / Female / Male / Pedigree / Clinical Sciences / Carcinoma / Adult / Hyperparathyroidism / Primary hyperparathyroidism / Clinical Endocrinology / Adenoma / Vitamin D Deficiency / Genetic Markers / Male / Pedigree / Clinical Sciences / Carcinoma / Adult / Hyperparathyroidism / Primary hyperparathyroidism / Clinical Endocrinology / Adenoma / Vitamin D Deficiency / Genetic Markers

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