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Genetic Testing
Genetic Testing
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
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
Screen for abnormal mitochondrial phenotypes in mouse embryonic stem cells identifies a model for succinyl-CoA ligase deficiency and mtDNA depletion
Mitochondria / Biological Sciences / Pregnancy / Mitochondrial DNA / Genetic Testing / Mutation / Placenta / Mice / Female / Animals / Embryonic Stem Cells / Phenotype / Human Fibroblasts / Mutation / Placenta / Mice / Female / Animals / Embryonic Stem Cells / Phenotype / Human Fibroblasts
Loss of Prion Protein in a Transgenic Model of Amyotrophic Lateral Sclerosis
Cognitive Science / Protein Folding / Skeletal muscle biology / Motor neuron / Transgenic Mice / Amyotrophic Lateral Sclerosis / Molecular chaperones / Molecular and cellular biology / Genetic Testing / Mutation / Mice / Animals / Spinal Cord / Superoxide Dismutase / Western blot / Sciatic Nerve / Cellular and Molecular Neuroscience / Enzymatic Activity / Neurosciences / Down-Regulation / Amyotrophic Lateral Sclerosis / Molecular chaperones / Molecular and cellular biology / Genetic Testing / Mutation / Mice / Animals / Spinal Cord / Superoxide Dismutase / Western blot / Sciatic Nerve / Cellular and Molecular Neuroscience / Enzymatic Activity / Neurosciences / Down-Regulation
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
A Genetic Screen Identifies PITX1 as a Suppressor of RAS Activity and Tumorigenicity
Transcription Factors / Biological Sciences / RNA interference / Cell line / Humans / Genetic Testing / Mice / Animals / Cell / Genetic Screening / Phenotype / Caco-2 cells / Tumor Suppressor Gene / Colon cancer / HeLa cells / Gene Expression Regulation / Genetic Testing / Mice / Animals / Cell / Genetic Screening / Phenotype / Caco-2 cells / Tumor Suppressor Gene / Colon cancer / HeLa cells / Gene Expression Regulation
An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12–q12
Genetics / Sequence Analysis / Humans / Genetic Testing / Haplotypes / Female / Male / Polymerase Chain Reaction / Cataract / Pedigree / Genetic linkage analysis / Middle Aged / Genotype / Base Sequence / Linkage Analysis / Female / Male / Polymerase Chain Reaction / Cataract / Pedigree / Genetic linkage analysis / Middle Aged / Genotype / Base Sequence / Linkage Analysis
El ductus venoso es un buen marcador de rescate en los riesgos intermedios del cribado combinado
Risk assessment / Down Syndrome / Pregnancy / Humans / Liver / Genetic Testing / Female / Risk factors / Adult / Risk Factors / Risk Assessment / Reference Values / Medicina Clinica / Genetic Testing / Female / Risk factors / Adult / Risk Factors / Risk Assessment / Reference Values / Medicina Clinica
Neoplasia Endocrina Múltiple Tipo 2: Un Ejemplo Para La Prevención Del Cáncer
Early Intervention / Cancer Prevention / Genetic Testing / Infection prevention and control
Neoplasia endocrina múltiple tipo 2: un ejemplo para la prevención del cáncer Multiple endocrine neoplasia type 2: a model for cancer prevention
Early Intervention / Cancer Prevention / Genetic Testing / Infection prevention and control
Large intra- and inter-individual variability of genes expression levels limits potential predictive value of molecular diagnosis of dysplasia in Barrett’s esophagus
Molecular Biology / Molecular Medicine / Medicine / Gene expression / Levels of selection / Humans / Genetic Testing / Variability / Female / Male / Statistical Significance / Comparative Analysis / Risk factors / Phenotype / Genotype / Esophagus / Molecular Marker / Prognosis / Reproducibility of Results / Genetic variation / Disease Progression / Risk Factors / Boundary Value Problems / Molecular Diagnostic Techniques / Molecular Diagnosis / Genetic Markers / Predictive value of tests / Gene expression profiling / Esophagoscopy / Down-Regulation / Humans / Genetic Testing / Variability / Female / Male / Statistical Significance / Comparative Analysis / Risk factors / Phenotype / Genotype / Esophagus / Molecular Marker / Prognosis / Reproducibility of Results / Genetic variation / Disease Progression / Risk Factors / Boundary Value Problems / Molecular Diagnostic Techniques / Molecular Diagnosis / Genetic Markers / Predictive value of tests / Gene expression profiling / Esophagoscopy / Down-Regulation
Large intra- and inter-individual variability of genes expression levels limits potential predictive value of molecular diagnosis of dysplasia in Barrett’s esophagus
Molecular Biology / Molecular Medicine / Medicine / Gene expression / Levels of selection / Humans / Genetic Testing / Variability / Female / Male / Statistical Significance / Comparative Analysis / Risk factors / Phenotype / Genotype / Esophagus / Molecular Marker / Prognosis / Reproducibility of Results / Genetic variation / Disease Progression / Risk Factors / Boundary Value Problems / Molecular Diagnostic Techniques / Molecular Diagnosis / Genetic Markers / Predictive value of tests / Gene expression profiling / Esophagoscopy / Down-Regulation / Humans / Genetic Testing / Variability / Female / Male / Statistical Significance / Comparative Analysis / Risk factors / Phenotype / Genotype / Esophagus / Molecular Marker / Prognosis / Reproducibility of Results / Genetic variation / Disease Progression / Risk Factors / Boundary Value Problems / Molecular Diagnostic Techniques / Molecular Diagnosis / Genetic Markers / Predictive value of tests / Gene expression profiling / Esophagoscopy / Down-Regulation
Prenatal and Postnatal Characterization of a De Novo Xq22.1 Terminal Deletion
Genetics / Pregnancy / Humans / Genetic Testing / Female / Clinical Sciences / Newborn Infant / Adult / Prenatal Diagnosis / X chromosome inactivation / Genetic / Clinical Sciences / Newborn Infant / Adult / Prenatal Diagnosis / X chromosome inactivation / Genetic
Denaturinggradientgel electrophoresisto diagnosemultipleendocrine neoplasiatype 2
Genetics / Adolescent / Clinical Chemistry / Humans / Child / Genetic Testing / Mutation / Medical Biotechnology / Polymerase Chain Reaction / Sodium Dodecyl Sulfate-Polyacrylamide Gel Electrophoresis / Clinical Sciences / Aged / Middle Aged / Adult / Indexation / Base Sequence / Genetic Testing / Mutation / Medical Biotechnology / Polymerase Chain Reaction / Sodium Dodecyl Sulfate-Polyacrylamide Gel Electrophoresis / Clinical Sciences / Aged / Middle Aged / Adult / Indexation / Base Sequence
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
Converting a Sulfenic Acid Reductase into a Disulfide Bond Isomerase
Protein Folding / Genetic Testing / Mutation / Copper / Escherichia coli / Oxidoreductases / Alkaline phosphatase / Amino Acids / Oxidoreductases / Alkaline phosphatase / Amino Acids
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