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Mutation
Mutation
Síndrome de temblor y ataxia asociado a síndrome del cromosoma X frágil: un nuevo tipo de ataxia cerebelosa asociada a los portadores del síndrome del cromosoma X frágil
Humans / Mutation / Female / Male / Cerebellar ataxia / Fragile X Syndrome / Middle Aged / Medicina Clinica / Fragile X Syndrome / Middle Aged / Medicina Clinica
Síndrome de temblor y ataxia asociado a síndrome del cromosoma X frágil: un nuevo tipo de ataxia cerebelosa asociada a los portadores del síndrome del cromosoma X frágil
Humans / Mutation / Female / Male / Cerebellar ataxia / Fragile X Syndrome / Middle Aged / Medicina Clinica / Fragile X Syndrome / Middle Aged / Medicina Clinica
Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
Science / Multidisciplinary / Transcriptome / Humans / Mutation / Animals / Genetic Association Studies / Neurons / Gene Regulatory Networks / SYNAPSES / Zebrafish / Axons / Nucleotides / Exome / Cohort Studies / Animals / Genetic Association Studies / Neurons / Gene Regulatory Networks / SYNAPSES / Zebrafish / Axons / Nucleotides / Exome / Cohort Studies
Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): A phenotypic comparison
Atherosclerosis / Adolescent / Comparative Study / Cell Culture / Italy / Lipids / Humans / Child / Mutation / Female / Male / Hypercholesterolemia / Infant / Phenotype / Clinical Sciences / Prevalence / Risk Factor / Digestive System / Adult / Familial Hypercholesterolemia / Coronary Artery Disease / Autosomal Recessive / Age Groups / Lipids / Humans / Child / Mutation / Female / Male / Hypercholesterolemia / Infant / Phenotype / Clinical Sciences / Prevalence / Risk Factor / Digestive System / Adult / Familial Hypercholesterolemia / Coronary Artery Disease / Autosomal Recessive / Age Groups
Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison
Atherosclerosis / Adolescent / Comparative Study / Cell Culture / Italy / Lipids / Humans / Child / Mutation / Female / Male / Hypercholesterolemia / Infant / Phenotype / Clinical Sciences / Prevalence / Risk Factor / Digestive System / Adult / Familial Hypercholesterolemia / Coronary Artery Disease / Autosomal Recessive / Age Groups / Lipids / Humans / Child / Mutation / Female / Male / Hypercholesterolemia / Infant / Phenotype / Clinical Sciences / Prevalence / Risk Factor / Digestive System / Adult / Familial Hypercholesterolemia / Coronary Artery Disease / Autosomal Recessive / Age Groups
EXOG, a novel paralog of Endonuclease G in higher eukaryotes
Biological Sciences / Phylogeny / Cell line / Environmental Sciences / Humans / Sequence alignment / Mutation / Animals / Nucleic Acids / Substrate Specificity / Amino Acid Sequence / Histidine / Dimerization / Mitochondrial Proteins / Sequence alignment / Mutation / Animals / Nucleic Acids / Substrate Specificity / Amino Acid Sequence / Histidine / Dimerization / Mitochondrial Proteins
Distal axonopathy in an alsin-deficient mouse model
Motor neuron / Amyotrophic Lateral Sclerosis / Biological Sciences / Brain / Pregnancy / Humans / Mutation / Mice / Female / Animals / Spinal Cord / Male / Human Molecular Genetics / Central Nervous System / Corticospinal Tract / Superoxide Dismutase / Mouse Model / Amino Acid Sequence / Axons / Humans / Mutation / Mice / Female / Animals / Spinal Cord / Male / Human Molecular Genetics / Central Nervous System / Corticospinal Tract / Superoxide Dismutase / Mouse Model / Amino Acid Sequence / Axons
MAN1B1 Deficiency: An Unexpected CDG-II
Genetics / Molecular Biology / Genomics / Adolescent / Intellectual Disability / Humans / Child / Mutation / Female / Male / Genetic Association Studies / Infant / Glycosylation / PLoS Genetics / Amino Acid Sequence / Golgi Apparatus / Exome / Humans / Child / Mutation / Female / Male / Genetic Association Studies / Infant / Glycosylation / PLoS Genetics / Amino Acid Sequence / Golgi Apparatus / Exome
Glucocorticoid and mineralocorticoid receptor mRNA expression in squirrel monkey brain
Endocrinology / Neuroendocrinology / Immunohistochemistry / Medicine / Gene expression / Prefrontal Cortex / Western blotting / Biological Sciences / Hippocampus / Dexamethasone / Brain / Humans / Testosterone / Intestinal Mucosa / Mutation / Cerebral Cortex / Aldosterone / Cholesterol / Female / Animals / Microglia / Corticosterone / Plant tissue Culture Techniques / Male / Hepatocellular Carcinoma / Psychoneuroendocrinology / Special functions / Rat Brain / Steady state / Clinical Sciences / Dentate Gyrus / mRna expression levels / Rats / Tritium / Diurnal Variation / Brain Structure / Dehydroepiandrosterone / Elevated Plus Maze / Glia / Psychiatric / Culture Media / Protein Binding / Mineralocorticoid Receptor / Neurosciences / Glucocorticoids / Estradiol / Adrenalectomy / DNA probes / Pregnenolone / Biochemistry and cell biology / Granule cell layer / Hippocampal formation / Lateral Amygdala / Prefrontal Cortex / Western blotting / Biological Sciences / Hippocampus / Dexamethasone / Brain / Humans / Testosterone / Intestinal Mucosa / Mutation / Cerebral Cortex / Aldosterone / Cholesterol / Female / Animals / Microglia / Corticosterone / Plant tissue Culture Techniques / Male / Hepatocellular Carcinoma / Psychoneuroendocrinology / Special functions / Rat Brain / Steady state / Clinical Sciences / Dentate Gyrus / mRna expression levels / Rats / Tritium / Diurnal Variation / Brain Structure / Dehydroepiandrosterone / Elevated Plus Maze / Glia / Psychiatric / Culture Media / Protein Binding / Mineralocorticoid Receptor / Neurosciences / Glucocorticoids / Estradiol / Adrenalectomy / DNA probes / Pregnenolone / Biochemistry and cell biology / Granule cell layer / Hippocampal formation / Lateral Amygdala
Inferring gene expression from ribosomal promoter sequences, a crowdsourcing approach
Algorithms / Systems Biology / Crowdsourcing / Gene expression / Biological Sciences / Saccharomyces cerevisiae / Mutation / Ribosomal proteins / Genome / Gene Regulatory Networks / Ribosomes / Gene expression profiling / Saccharomyces cerevisiae / Mutation / Ribosomal proteins / Genome / Gene Regulatory Networks / Ribosomes / Gene expression profiling
Candida albicans: genetics, dimorphism and pathogenicity
Microbiology / Medical Microbiology / Mutation / Candida albicans
A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)
Genetics / Cognitive Science / Membrane Proteins / Neurogenetics / Intellectual Disability / Humans / Child / Mutation / Female / Male / Pedigree / Corticospinal Tract / Hereditary spastic paraplegia / Autosomal Recessive / Lower Extremity / Neurosciences / Humans / Child / Mutation / Female / Male / Pedigree / Corticospinal Tract / Hereditary spastic paraplegia / Autosomal Recessive / Lower Extremity / Neurosciences
Antenatal presentation of carnitine palmitoyltransferase II deficiency
Genetics / DNA / Pregnancy / Humans / Kidney / Mutation / Female / Male / Jews / Clinical Sciences / Family Health / Calcinosis / Prenatal Diagnosis / Fetus / Fetal death / Mutation / Female / Male / Jews / Clinical Sciences / Family Health / Calcinosis / Prenatal Diagnosis / Fetus / Fetal death
Deconstructing common variable immunodeficiency by genetic analysis
Genetics / Disease susceptibility / Humans / Mutation / Genetic Analysis
Mitochondrial Phosphate–Carrier Deficiency: A Novel Disorder of Oxidative Phosphorylation
Energy Metabolism / Biological Sciences / Saccharomyces cerevisiae / Humans / Mutation / Female / Male / Infant / Alternative splicing / Siblings / Pedigree / Newborn Infant / Oxidative phosphorylation / Phosphates / Alternative Splicing / Amino Acid Sequence / Hypertrophic Cardiomyopathy / Human Fibroblasts / Adenosine Triphosphate / The American / Mitochondrial Proteins / Female / Male / Infant / Alternative splicing / Siblings / Pedigree / Newborn Infant / Oxidative phosphorylation / Phosphates / Alternative Splicing / Amino Acid Sequence / Hypertrophic Cardiomyopathy / Human Fibroblasts / Adenosine Triphosphate / The American / Mitochondrial Proteins
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing
Medical Genetics / Gene expression / Biological Sciences / Humans / Mutation / Mitochondrial Diseases / Amino Acid Substitution Rates / Exome / Mitochondrial Diseases / Amino Acid Substitution Rates / Exome
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