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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
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
Hb Lepore (Pylos)/Hb S compounds heterozygosity in two Greek families
Greece / Humans / Male / Pedigree / Middle Aged / Adult
ICOS deficiency in patients with common variable immunodeficiency
Immunology / Adolescent / Clinical immunology / Humans / Child / Female / Clinical / Male / Pedigree / T lymphocytes / Genomic DNA / Genotype / Adult / B Lymphocytes / Base Sequence / Autosomal Recessive / Bacterial Infection / Immunoglobulins / Female / Clinical / Male / Pedigree / T lymphocytes / Genomic DNA / Genotype / Adult / B Lymphocytes / Base Sequence / Autosomal Recessive / Bacterial Infection / Immunoglobulins
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
Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3
Cognitive Science / Humans / Female / Spinocerebellar ataxia / Male / Pedigree / Clinical Sciences / Middle Aged / Adult / Genetic variation / Gaucher Disease / Parkinson Disease / Machado-Joseph Disease / Pedigree / Clinical Sciences / Middle Aged / Adult / Genetic variation / Gaucher Disease / Parkinson Disease / Machado-Joseph Disease
Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical series
Genetics / Cognitive Science / Brain Imaging / Dementia / Neurogenetics / Family history / Italy / Humans / Mutation / Female / Male / Pedigree / Introns / Aged / Middle Aged / Genetic variation / Base Sequence / Neurosciences / Case Control Studies / Family history / Italy / Humans / Mutation / Female / Male / Pedigree / Introns / Aged / Middle Aged / Genetic variation / Base Sequence / Neurosciences / Case Control Studies
X‐linked vacuolar myopathies: Two separate loci and refined genetic mapping
Adolescent / Humans / Haplotypes / Female / Male / Genetic Map / Pedigree / Genetic linkage analysis / Clinical Sciences / Adult / X chromosome / Neurosciences / Vacuoles / Genetic Map / Pedigree / Genetic linkage analysis / Clinical Sciences / Adult / X chromosome / Neurosciences / Vacuoles
Congenital Creatine Transporter Deficiency
Magnetic Resonance Imaging / Magnetic Resonance Spectroscopy / Humans / Child / Female / Inborn errors of metabolism / Male / Pedigree / Membrane transport proteins / Adult / Neuropediatrics / Neurosciences / Inborn errors of metabolism / Male / Pedigree / Membrane transport proteins / Adult / Neuropediatrics / Neurosciences
X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome
Creatine / Intellectual Disability / Biological Sciences / Humans / Child / Female / Male / Developmental disabilities / Pedigree / Membrane transport proteins / Genetic linkage analysis / X chromosome / Amino Acid Sequence / Base Sequence / Human Fibroblasts / Syndrome / The American / Female / Male / Developmental disabilities / Pedigree / Membrane transport proteins / Genetic linkage analysis / X chromosome / Amino Acid Sequence / Base Sequence / Human Fibroblasts / Syndrome / The American
X-linked creatine-transporter gene (SLC6A8) defect: A new creatine-deficiency syndrome
Creatine / Intellectual Disability / Biological Sciences / Humans / Child / Female / Male / Developmental disabilities / Pedigree / Membrane transport proteins / Genetic linkage analysis / X chromosome / Amino Acid Sequence / Base Sequence / Human Fibroblasts / Syndrome / The American / Female / Male / Developmental disabilities / Pedigree / Membrane transport proteins / Genetic linkage analysis / X chromosome / Amino Acid Sequence / Base Sequence / Human Fibroblasts / Syndrome / The American
Síndrome de Andersen-Tawil: una revisión del diagnóstico genético y clínico con énfasis en sus manifestaciones cardíacas
Genetics / Genomics / Molecular Genetics / Humans / Pedigree / Clinical Sciences / Massive Sequencing and Microarray Pdf / Heart Diseases / Clinical Sciences / Massive Sequencing and Microarray Pdf / Heart Diseases
Genomic prediction based on data from three layer lines: a comparison between linear methods
Technology / Genomics / Principal Component Analysis / Breeding / Linear models / Biological Sciences / Female / Animals / Regression Analysis / Genome / Pedigree / Eggs / Genotype / Chickens / Bayes Theorem / Biological Sciences / Female / Animals / Regression Analysis / Genome / Pedigree / Eggs / Genotype / Chickens / Bayes Theorem
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing
Medical Genetics / Biological Sciences / Humans / Mutation / Retinitis pigmentosa / Female / Pedigree / Genotype / Reproducibility of Results / Amino Acid Sequence / Base Sequence / Sensitivity and Specificity / Exome / Female / Pedigree / Genotype / Reproducibility of Results / Amino Acid Sequence / Base Sequence / Sensitivity and Specificity / Exome
Frontotemporal dementia–amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1–q12.2: genetic, clinical and neuropathological analysis
Cognitive Science / Magnetic Resonance Imaging / Positron Emission Tomography / Amyotrophic Lateral Sclerosis / Brain / Humans / Haplotypes / Female / Male / Iron / Differential Diagnosis / Electromyography / Phosphorylation / Pedigree / Genetic linkage analysis / Clinical Sciences / Aged / Middle Aged / Frontotemporal Dementia / DNA binding proteins / Neurosciences / Humans / Haplotypes / Female / Male / Iron / Differential Diagnosis / Electromyography / Phosphorylation / Pedigree / Genetic linkage analysis / Clinical Sciences / Aged / Middle Aged / Frontotemporal Dementia / DNA binding proteins / Neurosciences
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