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Genetic Testing
Genetic Testing
Familial hypercholesterolaemia: a model of care for Australasia
Atherosclerosis / Adolescent / Humans / Child / Genetic Testing / Female / New Zealand / Standardisation / Expert Opinion / Australasia / Cost effectiveness / Risk factors / Spectrum / Adult / Coronary heart disease / Risk Factors / Female / New Zealand / Standardisation / Expert Opinion / Australasia / Cost effectiveness / Risk factors / Spectrum / Adult / Coronary heart disease / Risk Factors
Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice
Genetics / Ethics / Human Genetics / Informed Consent / Molecular Genetics / Genetic counseling / Cytogenetics / Clinical Practice / Pregnancy / Mitochondrial DNA / Humans / Genetic Testing / Mutation / Female / Feasibility Studies / Clinical Genetics / Preimplantation genetic diagnosis / Embryo Research / Mitochondrial Diseases / Scientific Research / Minor / Health risk / Embryos / Clinical Application / Good Clinical Practice in Clinical Trials / Genetic counseling / Cytogenetics / Clinical Practice / Pregnancy / Mitochondrial DNA / Humans / Genetic Testing / Mutation / Female / Feasibility Studies / Clinical Genetics / Preimplantation genetic diagnosis / Embryo Research / Mitochondrial Diseases / Scientific Research / Minor / Health risk / Embryos / Clinical Application / Good Clinical Practice in Clinical Trials
Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart
Genetics / Adolescent / Human / DNA / Stroke / Humans / Genetic Testing / Female / Male / Pedigree / Clinical Sciences / Middle Aged / Adult / Cohort Studies / Humans / Genetic Testing / Female / Male / Pedigree / Clinical Sciences / Middle Aged / Adult / Cohort Studies
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients
Genetics / Adolescent / Humans / Child / Genetic Testing / Female / Male / Infant / Proteins / Gene Duplication / Human Genome / Adult / Cornelia de Lange Syndrome / Sensitivity and Specificity / Cell Cycle Proteins / Comparative Genomic Hybridization / Cohort Studies / Female / Male / Infant / Proteins / Gene Duplication / Human Genome / Adult / Cornelia de Lange Syndrome / Sensitivity and Specificity / Cell Cycle Proteins / Comparative Genomic Hybridization / Cohort Studies
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)
Adolescent / Apoptosis / Nature / Biological Sciences / Humans / Child / Genetic Testing / Mutation / Female / Male / Infant / Proteins / Pedigree / Adult / Autosomal Recessive / Myeloid Cells / Syndrome / Child / Genetic Testing / Mutation / Female / Male / Infant / Proteins / Pedigree / Adult / Autosomal Recessive / Myeloid Cells / Syndrome
Familial hypercholesterolaemia: a model of care for Australasia
Atherosclerosis / Adolescent / Humans / Child / Genetic Testing / Female / New Zealand / Standardisation / Expert Opinion / Australasia / Cost effectiveness / Risk factors / Spectrum / Adult / Coronary heart disease / Risk Factors / Female / New Zealand / Standardisation / Expert Opinion / Australasia / Cost effectiveness / Risk factors / Spectrum / Adult / Coronary heart disease / Risk Factors
Fundamentos clínicos del consejo genético en cáncer hereditario
Genetics / Informed Consent / Genetic counseling / Clinical Practice / Genetic Testing / Psicooncologia / Cancer Risk / Psicooncologia / Cancer Risk
An Unstable Trinucleotide-Repeat Region on Chromosome 13 Implicated in Spinocerebellar Ataxia: A Common Expansion Locus
Christianity / Schizophrenia / Bipolar Disorder / Borderline Personality Disorder / Biological Sciences / Humans / Genetic Testing / Female / Spinocerebellar ataxia / Male / Depressive Disorder / Pedigree / Genetic linkage analysis / Molecular cloning / Adult / Reproducibility of Results / Trinucleotide Repeat Disorders / The American / Humans / Genetic Testing / Female / Spinocerebellar ataxia / Male / Depressive Disorder / Pedigree / Genetic linkage analysis / Molecular cloning / Adult / Reproducibility of Results / Trinucleotide Repeat Disorders / The American
Pseudoxanthoma elasticum and familial hypercholesterolemia: A deleterious combination of cardiovascular risk factors
Atherosclerosis / Risk Management / Adolescent / Humans / Child / Genetic Testing / Female / Male / Pedigree / Clinical Sciences / Middle Aged / Cardiovascular system / Adult / Cardiovascular Risk Factor / Angina pectoris / Familial Hypercholesterolemia / Coronary Artery Disease / Autosomal Recessive / Genetic Testing / Female / Male / Pedigree / Clinical Sciences / Middle Aged / Cardiovascular system / Adult / Cardiovascular Risk Factor / Angina pectoris / Familial Hypercholesterolemia / Coronary Artery Disease / Autosomal Recessive
Recomendaciones de buenas prácticas para el diagnóstico genético de la distrofia miotónica
Benchmarking / Software Design / Pregnancy / Humans / Genetic Testing / Mutation / Haplotypes / Female / Male / Polymerase Chain Reaction / Myotonic Dystrophy / Duchenne Muscular Dystrophy / Preimplantation genetic diagnosis / RNA-binding proteins / Prenatal Diagnosis / Molecular Diagnostic Techniques / Dystrophin / Medicina Clinica / Early Diagnosis / Genetic Markers / Mutation / Haplotypes / Female / Male / Polymerase Chain Reaction / Myotonic Dystrophy / Duchenne Muscular Dystrophy / Preimplantation genetic diagnosis / RNA-binding proteins / Prenatal Diagnosis / Molecular Diagnostic Techniques / Dystrophin / Medicina Clinica / Early Diagnosis / Genetic Markers
Array comparative genomic hybridization identifies novel potential therapeutic targets in cholangiocarcinoma
Genetics / Cancer / Survival Analysis / Immunohistochemistry / Treatment Outcome / Electrocardiography / DNA / Humans / Genetic Testing / Glioblastoma / Female / Nucleic acid hybridization / Renal cell Carcinoma / Male / Cluster Analysis / Long QT syndrome / Gene Dosage / Genes / Clinical Sciences / Aged / Middle Aged / Doxorubicin / Microarray Analysis / Adult / Cholangiocarcinoma / Retrospective Studies / Prognosis / Sudden Cardiac Death / Diffuse Large B-Cell Lymphoma / Reproducibility of Results / Individualized Medicine / DNA Copy Number / Cyclophosphamide / Molecular Targeted Therapy / Predictive value of tests / Brain Neoplasms / Comparative Genomic Hybridization / Array Comparative Genomic Hybridization / Gene expression profiling / Hematopoietic Stem Cell Transplantation / Electrocardiography / DNA / Humans / Genetic Testing / Glioblastoma / Female / Nucleic acid hybridization / Renal cell Carcinoma / Male / Cluster Analysis / Long QT syndrome / Gene Dosage / Genes / Clinical Sciences / Aged / Middle Aged / Doxorubicin / Microarray Analysis / Adult / Cholangiocarcinoma / Retrospective Studies / Prognosis / Sudden Cardiac Death / Diffuse Large B-Cell Lymphoma / Reproducibility of Results / Individualized Medicine / DNA Copy Number / Cyclophosphamide / Molecular Targeted Therapy / Predictive value of tests / Brain Neoplasms / Comparative Genomic Hybridization / Array Comparative Genomic Hybridization / Gene expression profiling / Hematopoietic Stem Cell Transplantation
Recomendaciones de buenas prácticas para el diagnóstico genético de la distrofia miotónica
Benchmarking / Software Design / Pregnancy / Humans / Genetic Testing / Mutation / Haplotypes / Female / Male / Polymerase Chain Reaction / Myotonic Dystrophy / Duchenne Muscular Dystrophy / Preimplantation genetic diagnosis / RNA-binding proteins / Prenatal Diagnosis / Molecular Diagnostic Techniques / Dystrophin / Medicina Clinica / Early Diagnosis / Genetic Markers / Mutation / Haplotypes / Female / Male / Polymerase Chain Reaction / Myotonic Dystrophy / Duchenne Muscular Dystrophy / Preimplantation genetic diagnosis / RNA-binding proteins / Prenatal Diagnosis / Molecular Diagnostic Techniques / Dystrophin / Medicina Clinica / Early Diagnosis / Genetic Markers
Progranulin genetic variability contributes to amyotrophic lateral sclerosis
Cognitive Science / Neurology / Dementia / Belgium / Amyotrophic Lateral Sclerosis / Humans / Genetic Testing / Mutation / Haplotypes / Female / Male / Netherlands / Clinical Sciences / Aged / Middle Aged / Genotype / Adult / Survival Rate / Genetic variation / Genetic Variability / Genetic Markers / Neurosciences / Age of Onset / Humans / Genetic Testing / Mutation / Haplotypes / Female / Male / Netherlands / Clinical Sciences / Aged / Middle Aged / Genotype / Adult / Survival Rate / Genetic variation / Genetic Variability / Genetic Markers / Neurosciences / Age of Onset
Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart
Genetics / Adolescent / Human / DNA / Stroke / Humans / Genetic Testing / Female / Male / Pedigree / Clinical Sciences / Middle Aged / Adult / Cohort Studies / Humans / Genetic Testing / Female / Male / Pedigree / Clinical Sciences / Middle Aged / Adult / Cohort Studies
Familial hypercholesterolaemia: a model of care for Australasia
Atherosclerosis / Adolescent / Humans / Child / Genetic Testing / Female / New Zealand / Standardisation / Expert Opinion / Australasia / Cost effectiveness / Risk factors / Spectrum / Adult / Coronary heart disease / Risk Factors / Female / New Zealand / Standardisation / Expert Opinion / Australasia / Cost effectiveness / Risk factors / Spectrum / Adult / Coronary heart disease / Risk Factors
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)
Adolescent / Apoptosis / Nature / Biological Sciences / Humans / Child / Genetic Testing / Mutation / Female / Male / Infant / Proteins / Pedigree / Adult / Autosomal Recessive / Myeloid Cells / Syndrome / Child / Genetic Testing / Mutation / Female / Male / Infant / Proteins / Pedigree / Adult / Autosomal Recessive / Myeloid Cells / Syndrome
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