Genetic Disorder

Triagem de hemoglobinopatias em doadores de sangue de Caxias do Sul, Rio Grande do Sul, Brasil: prevalência em área de colonização italiana

DNA sequence design / Rio Grande do Sul / Electrophoresis / Genetic Disorder / Rural Area / DNA sequence

Echocardiographic Features of Genetic Diseases: Part 6. Complex Cardiovascular Defects

Genetics / Adolescent / Williams Syndrome / Down Syndrome / Echocardiography / Spleen / Congenital Heart Defects / Humans / Child / Female / Inborn errors of metabolism / Connective tissue / Marfan syndrome / Differential Diagnosis / Pheochromocytoma / Hemochromatosis / Fabry Disease / Aged / L-carnitine / Adult / Tuberous sclerosis / Genetic Disorder / Neoplasms / Ehlers-Danlos Syndrome / Reproducibility of Results / Noonan syndrome / Cardiomyopathies / Pericardium / Hypertrophic Cardiomyopathy / Aorta / Turner Syndrome / Gaucher Disease / Friedreich Ataxia / Myxoma / Heart Diseases / Spleen / Congenital Heart Defects / Humans / Child / Female / Inborn errors of metabolism / Connective tissue / Marfan syndrome / Differential Diagnosis / Pheochromocytoma / Hemochromatosis / Fabry Disease / Aged / L-carnitine / Adult / Tuberous sclerosis / Genetic Disorder / Neoplasms / Ehlers-Danlos Syndrome / Reproducibility of Results / Noonan syndrome / Cardiomyopathies / Pericardium / Hypertrophic Cardiomyopathy / Aorta / Turner Syndrome / Gaucher Disease / Friedreich Ataxia / Myxoma / Heart Diseases

Echocardiographic features of genetic diseases: Part 1. Cardiomyopathy

Genetics / Adolescent / Williams Syndrome / Down Syndrome / Echocardiography / Spleen / Congenital Heart Defects / Humans / Child / Female / Inborn errors of metabolism / Connective tissue / Marfan syndrome / Differential Diagnosis / Pheochromocytoma / Hemochromatosis / Fabry Disease / Aged / L-carnitine / Adult / Tuberous sclerosis / Genetic Disorder / Neoplasms / Ehlers-Danlos Syndrome / Reproducibility of Results / Noonan syndrome / Cardiomyopathies / Pericardium / Hypertrophic Cardiomyopathy / Aorta / Turner Syndrome / Gaucher Disease / Friedreich Ataxia / Myxoma / Heart Diseases / Spleen / Congenital Heart Defects / Humans / Child / Female / Inborn errors of metabolism / Connective tissue / Marfan syndrome / Differential Diagnosis / Pheochromocytoma / Hemochromatosis / Fabry Disease / Aged / L-carnitine / Adult / Tuberous sclerosis / Genetic Disorder / Neoplasms / Ehlers-Danlos Syndrome / Reproducibility of Results / Noonan syndrome / Cardiomyopathies / Pericardium / Hypertrophic Cardiomyopathy / Aorta / Turner Syndrome / Gaucher Disease / Friedreich Ataxia / Myxoma / Heart Diseases

Echocardiographic Features of Genetic Diseases: Part 4. Connective Tissue

Genetics / Adolescent / Williams Syndrome / Down Syndrome / Echocardiography / Spleen / Congenital Heart Defects / Humans / Child / Female / Inborn errors of metabolism / Connective tissue / Marfan syndrome / Differential Diagnosis / Pheochromocytoma / Hemochromatosis / Fabry Disease / Aged / L-carnitine / Adult / Tuberous sclerosis / Genetic Disorder / Neoplasms / Ehlers-Danlos Syndrome / Reproducibility of Results / Noonan syndrome / Cardiomyopathies / Pericardium / Hypertrophic Cardiomyopathy / Aorta / Turner Syndrome / Gaucher Disease / Friedreich Ataxia / Myxoma / Heart Diseases / Spleen / Congenital Heart Defects / Humans / Child / Female / Inborn errors of metabolism / Connective tissue / Marfan syndrome / Differential Diagnosis / Pheochromocytoma / Hemochromatosis / Fabry Disease / Aged / L-carnitine / Adult / Tuberous sclerosis / Genetic Disorder / Neoplasms / Ehlers-Danlos Syndrome / Reproducibility of Results / Noonan syndrome / Cardiomyopathies / Pericardium / Hypertrophic Cardiomyopathy / Aorta / Turner Syndrome / Gaucher Disease / Friedreich Ataxia / Myxoma / Heart Diseases

Removing System Noise from Comparative Genomic Hybridization Data by Self-Self Analysis

Genetics / Principal Component Analysis / Linear Model / Singular value decomposition / Data Dependence / Copy Number Variation / Genomic DNA / Genetic Disorder / Signal to Noise Ratio / Quantitative Method / Nucleic Acid / Copy Number Variation / Genomic DNA / Genetic Disorder / Signal to Noise Ratio / Quantitative Method / Nucleic Acid

Distúrbio de leitura e escrita na síndrome de Silver-Russel: relato de caso

Phonological processing / Reading and writing / Lexical access / Genetic Disorder / School Performance

Removing system noise from comparative genomic hybridization data by self-self analysis

Genetics / Principal Component Analysis / Linear Model / Singular value decomposition / Data Dependence / Copy Number Variation / Genomic DNA / Genetic Disorder / Signal to Noise Ratio / Quantitative Method / Nucleic Acid / Copy Number Variation / Genomic DNA / Genetic Disorder / Signal to Noise Ratio / Quantitative Method / Nucleic Acid
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