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Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease
Brain / Humans / Mutation / Female / Male / Pedigree / Clinical Sciences / Haloperidol / Aged / Middle Aged / Annals / Lymphocytes / DNA binding proteins / Neurosciences / Opipramol / Pedigree / Clinical Sciences / Haloperidol / Aged / Middle Aged / Annals / Lymphocytes / DNA binding proteins / Neurosciences / Opipramol
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
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
Infantile lethal neuraminidase deficiency (sialidosis)
Genetics / Spleen / Humans / Liver / Female / Clinical Genetics / Infant / Pedigree / Neuraminidase / Clinical Sciences / Clinical Genetics / Infant / Pedigree / Neuraminidase / Clinical Sciences
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
Generalized atrophic benign epidermolysis bullosa. Either 180-kd bullous pemphigoid antigen or laminin-5 deficiency
Genetics / Electron Microscopy / Dermatology / Adolescent / Biopsy / Humans / Child / Keratinocytes / Mutation / Collagen / Female / Epidermolysis Bullosa / Male / Skin / Hyperplasia / Pedigree / Risk factors / Clinical Sciences / Association / Aged / Middle Aged / Oral Squamous Cell Carcinoma (OSCC) / Fluorescent Antibody Technique / ALOPECIA / Atrophy / Bullous Pemphigoid / Granulation Tissue / Epithelium / Adult / Prognosis / Risk Factors / Dental Enamel / Chronic Kidney Failure / Epitopes / Antigens / Cell Adhesion Molecules / Autoantigens / Skin Neoplasms / Mohs surgery / Humans / Child / Keratinocytes / Mutation / Collagen / Female / Epidermolysis Bullosa / Male / Skin / Hyperplasia / Pedigree / Risk factors / Clinical Sciences / Association / Aged / Middle Aged / Oral Squamous Cell Carcinoma (OSCC) / Fluorescent Antibody Technique / ALOPECIA / Atrophy / Bullous Pemphigoid / Granulation Tissue / Epithelium / Adult / Prognosis / Risk Factors / Dental Enamel / Chronic Kidney Failure / Epitopes / Antigens / Cell Adhesion Molecules / Autoantigens / Skin Neoplasms / Mohs surgery
Aromatic L-Amino Acid Decarboxylase Deficiency Is a Cause of Long-Fasting Hypoglycemia
Cognitive Science / Neurology / Magnetic Resonance Imaging / Treatment Outcome / Adolescent / Movement disorders / Dopamine / Cerebrospinal Fluid / Brain / Pregnancy / Humans / Child / Hemodynamics / Female / Inborn errors of metabolism / Male / Young Adult / Infant / Follow-up studies / Amniotic Fluid / Differential Diagnosis / Pedigree / Levodopa / Child Neurology / Clinical Sciences / Newborn Infant / European / Longitudinal Studies / Pyridoxine / Adult / Consanguinity / Retrospective Studies / Neuropediatrics / Combination drug therapy / Amino Acid Profile / Biogenic amines / Autosomal Recessive / Clinical Presentation / Neurosciences / Nervous System Diseases / Age of Onset / Movement Disorder / Bromocriptine / Serotonin Uptake Inhibitors / Founder Effect / Medical Treatment / Movement disorders / Dopamine / Cerebrospinal Fluid / Brain / Pregnancy / Humans / Child / Hemodynamics / Female / Inborn errors of metabolism / Male / Young Adult / Infant / Follow-up studies / Amniotic Fluid / Differential Diagnosis / Pedigree / Levodopa / Child Neurology / Clinical Sciences / Newborn Infant / European / Longitudinal Studies / Pyridoxine / Adult / Consanguinity / Retrospective Studies / Neuropediatrics / Combination drug therapy / Amino Acid Profile / Biogenic amines / Autosomal Recessive / Clinical Presentation / Neurosciences / Nervous System Diseases / Age of Onset / Movement Disorder / Bromocriptine / Serotonin Uptake Inhibitors / Founder Effect / Medical Treatment
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
A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene
Humans / Mutation / Male / Polymerase Chain Reaction / Retinal Degeneration / Pedigree / Optometry and Ophthalmology / Genotype / Lysine / Adult / Amino Acid Sequence / Base Sequence / Transducin / Pedigree / Optometry and Ophthalmology / Genotype / Lysine / Adult / Amino Acid Sequence / Base Sequence / Transducin
Congenital Darier disease
Humans / Female / Male / Infant / Skin / Pedigree / Clinical Sciences / Family Health / Darier Disease / Pedigree / Clinical Sciences / Family Health / Darier Disease
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
Merosin-positive congenital muscular dystrophy with transient brain dysmyelination, pontocerebellar hypoplasia and mental retardation
Pathology / Cognitive Science / Skeletal muscle biology / Magnetic Resonance Imaging / Epilepsy / Histology / Immunohistochemistry / Adolescent / Intellectual Disability / Brain development / Israel / Biopsy / Mental Retardation / London / Brain / Humans / Child / Cerebellum / Muscle / Cerebral Cortex / Haplotypes / Female / Muscular Dystrophies / Male / Muscles / Infant / Cataract / Central Nervous System / Medical Physiology / Pedigree / Creatine Kinase / Genetic linkage analysis / Clinical Sciences / Fluorescent Antibody Technique / Skeletal Muscle / Adult / Neuromuscular Disorders / Time Factors / Scoliosis / Consanguinity / Neuronal Migration / Neuropediatrics / Torticollis / Dystrophin / X ray Computed Tomography / Nuclear Magnetic Resonance Imaging / Mr Imaging / Genetic Markers / Neurosciences / Linkage Analysis / Occipital Lobe / Nino / Myelin Sheath / Histology / Immunohistochemistry / Adolescent / Intellectual Disability / Brain development / Israel / Biopsy / Mental Retardation / London / Brain / Humans / Child / Cerebellum / Muscle / Cerebral Cortex / Haplotypes / Female / Muscular Dystrophies / Male / Muscles / Infant / Cataract / Central Nervous System / Medical Physiology / Pedigree / Creatine Kinase / Genetic linkage analysis / Clinical Sciences / Fluorescent Antibody Technique / Skeletal Muscle / Adult / Neuromuscular Disorders / Time Factors / Scoliosis / Consanguinity / Neuronal Migration / Neuropediatrics / Torticollis / Dystrophin / X ray Computed Tomography / Nuclear Magnetic Resonance Imaging / Mr Imaging / Genetic Markers / Neurosciences / Linkage Analysis / Occipital Lobe / Nino / Myelin Sheath
Abordaje familiar en la amiloidosis cardiaca hereditaria por transtiretina
Genetics / Mineral Processing / Humans / Hypertension / Female / Male / Liver Transplantation / Pedigree / Aged / Middle Aged / Disease Progression / Heart Diseases / Pulmonary circulation / Male / Liver Transplantation / Pedigree / Aged / Middle Aged / Disease Progression / Heart Diseases / Pulmonary circulation
SNCA locus duplication carriers: from genetics to Parkinson disease phenotypes
Genetics / Alpha Synuclein / Humans / Gene Duplication / Pedigree / Phenotype / Clinical Sciences / Base Sequence / Parkinson Disease / Phenotype / Clinical Sciences / Base Sequence / Parkinson Disease
Muscular dystrophy due to dysferlin deficiency in Libyan Jews: Clinical and genetic features
Genetics / Skeletal muscle biology / Membrane Proteins / Limb Girdle Muscular Dystrophy / Biopsy / Libya / Brain / Humans / Muscular Dystrophy / Female / Muscular Dystrophies / Male / Jews / Electromyography / Pedigree / Hypertrophy / Creatine Kinase / Middle Aged / Family Health / Adult / Libya / Brain / Humans / Muscular Dystrophy / Female / Muscular Dystrophies / Male / Jews / Electromyography / Pedigree / Hypertrophy / Creatine Kinase / Middle Aged / Family Health / Adult
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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