Categoría
Top Descargas
Iniciar sesión
Registrarse
Subir
Búsqueda
Categoría
Top Descargas
Iniciar sesión
Registrarse
Búsqueda
Home
Categories
Syndrome
Syndrome
Cerebro-costo-mandibular syndrome: A case report
Pediatrics / Case Report / Humans / Male / Consanguinity / Syndrome / Ribs / Syndrome / Ribs
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
Congenital CataractsFacial DysmorphismNeuropathy syndrome
Genetics / Magnetic Resonance Imaging / Bulgaria / Electroencephalography / Face / Adolescent / Electrocardiography / Developmental Coordination Disorder / Gene Mapping / Brain / Humans / Child / Female / Male / Infant / Gypsies / Cataract / Pedigree / Phenotype / Clinical Sciences / European / Adult / Linkage Disequilibrium / Nervous System / Annals / Syndrome / Neurosciences / Nervous System Diseases / Founder Effect / Adolescent / Electrocardiography / Developmental Coordination Disorder / Gene Mapping / Brain / Humans / Child / Female / Male / Infant / Gypsies / Cataract / Pedigree / Phenotype / Clinical Sciences / European / Adult / Linkage Disequilibrium / Nervous System / Annals / Syndrome / Neurosciences / Nervous System Diseases / Founder Effect
WNT4 deficiency--a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: A Case Report
Adolescent / Case Report / Humans / Child / Sequence alignment / Kidney / Female / Infant / Sex Determination / Phenotype / Human reproduction / Adult / Amino Acid Sequence / Ovary / Amino Acid Substitution Rates / Sexual Differentiation / Uterus / Syndrome / Kidney / Female / Infant / Sex Determination / Phenotype / Human reproduction / Adult / Amino Acid Sequence / Ovary / Amino Acid Substitution Rates / Sexual Differentiation / Uterus / Syndrome
NCAM and lymphocyte adhesion in leucocyte adhesion deficiency (LAD) syndrome
Immunology / Cell Adhesion / Humans / Vascular endothelium / Syndrome / Leukocytes
Acrofacial dysostoses
Genetics / Humans / Female / Clinical Sciences / Newborn Infant / Syndrome / Bone and Bones / Syndrome / Bone and Bones
Colorectal Cancer Is a Paracrine Deficiency Syndrome Amenable to Oral Hormone Replacement Therapy
Colorectal cancer / Signal Transduction / Humans / Mice / Animals / Clinical / Precancerous Conditions / Homeostasis / Syndrome / Hormone Replacement Therapy / Guanylate Cyclase / Clinical / Precancerous Conditions / Homeostasis / Syndrome / Hormone Replacement Therapy / Guanylate Cyclase
Glucose transporter type 1 deficiency syndrome (Glut1DS): methylxanthines potentiate GLUT1 haploinsufficiency in vitro
Kinetics / Adolescent / Humans / Child / Caffeine / Mutation / Female / Male / Pediatric / Theophylline / Glucose Transport / Erythrocytes / Phenobarbital / Syndrome / Case Control Studies / Mutation / Female / Male / Pediatric / Theophylline / Glucose Transport / Erythrocytes / Phenobarbital / Syndrome / Case Control Studies
Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes
Magnetic Resonance Imaging / Epilepsy / Electroencephalography / Magnetic Resonance Spectroscopy / Energy Metabolism / Stroke / Brain / Mitochondrial DNA / Humans / Cerebellum / Thalamus / Mutation / Mitochondrial Diseases / Neocortex / Arginine / Disease Progression / Cysteine / Glycine / Sensitivity and Specificity / X ray Computed Tomography / Syndrome / DNA Polymerase / Brain Diseases / Magnetic resonance angiography / Stroke / Brain / Mitochondrial DNA / Humans / Cerebellum / Thalamus / Mutation / Mitochondrial Diseases / Neocortex / Arginine / Disease Progression / Cysteine / Glycine / Sensitivity and Specificity / X ray Computed Tomography / Syndrome / DNA Polymerase / Brain Diseases / Magnetic resonance angiography
Adult phosphorylaseb kinase deficiency
Spinal Muscular Atrophy / Humans / Male / Muscles / Creatine Kinase / Clinical Sciences / Middle Aged / Adult / X chromosome / *Physical Exertion / Syndrome / Glycogen / Neurosciences / Clinical Sciences / Middle Aged / Adult / X chromosome / *Physical Exertion / Syndrome / Glycogen / Neurosciences
Pain, Depression, and Fatigue: Loneliness as a Longitudinal Risk Factor
Health Psychology / Education / Pain / Depression / Dementia / Quality of life / Fatigue / Linear models / Humans / Survivors / Female / Male / Loneliness / Risk factors / Caregivers / Ohio / Aged / Middle Aged / Longitudinal Studies / Adult / Neoplasms / Risk Factors / Syndrome / Case Control Studies / Quality of life / Fatigue / Linear models / Humans / Survivors / Female / Male / Loneliness / Risk factors / Caregivers / Ohio / Aged / Middle Aged / Longitudinal Studies / Adult / Neoplasms / Risk Factors / Syndrome / Case Control Studies
Aromatic-L-amino-acid decarboxylase, a pyridoxal phosphate-dependent enzyme, is a beta-cell autoantigen
Adolescent / Multidisciplinary / Serotonin / Dopamine / Humans / Female / Animals / Alternative splicing / Enzyme / Rats / Amino Acid Profile / Alternative Splicing / Amino Acid Sequence / Base Sequence / Type 2 Diabetes Mellitus / Clinical Presentation / Recombinant Proteins / Syndrome / Gonads / Full Length Movies / Glutamate decarboxylase / islets of Langerhans / Autoantigens / Female / Animals / Alternative splicing / Enzyme / Rats / Amino Acid Profile / Alternative Splicing / Amino Acid Sequence / Base Sequence / Type 2 Diabetes Mellitus / Clinical Presentation / Recombinant Proteins / Syndrome / Gonads / Full Length Movies / Glutamate decarboxylase / islets of Langerhans / Autoantigens
Radiology Quiz Case 2
Magnetic Resonance Imaging / Immunohistochemistry / Risk assessment / Adolescent / Endoscopy / Humans / Female / Headache / Male / Neck Pain / Follow-up studies / Differential Diagnosis / Skull Base / Clinical Sciences / Middle Aged / Neoplasm Invasiveness / Calcinosis / Adult / Gadolinium / Risk Assessment / X ray Computed Tomography / Dizziness / Syndrome / Nasal Obstruction / *Radiographic Image Enhancement / Temporomandibular Joint Disorders / Angiofibroma / Humans / Female / Headache / Male / Neck Pain / Follow-up studies / Differential Diagnosis / Skull Base / Clinical Sciences / Middle Aged / Neoplasm Invasiveness / Calcinosis / Adult / Gadolinium / Risk Assessment / X ray Computed Tomography / Dizziness / Syndrome / Nasal Obstruction / *Radiographic Image Enhancement / Temporomandibular Joint Disorders / Angiofibroma
Lemierre\'s syndrome and genetic polymorphisms: a case report
Microbiology / Medical Microbiology / Adolescent / Toll like receptor signaling / Inflammatory Immune Response / Medical History / Case Report / Humans / Septic Shock / Female / Acute respiratory distress syndrome / Clinical Sciences / Intensive Care Unit / Single Nucleotide Polymorphism / Genetic Polymorphism / Genetic Predisposition / Tissue Factor / Syndrome / Fusobacterium Necrophorum / Plasminogen Activator Inhibitor / Medical History / Case Report / Humans / Septic Shock / Female / Acute respiratory distress syndrome / Clinical Sciences / Intensive Care Unit / Single Nucleotide Polymorphism / Genetic Polymorphism / Genetic Predisposition / Tissue Factor / Syndrome / Fusobacterium Necrophorum / Plasminogen Activator Inhibitor
Coenzyme Q deficiency triggers mitochondria degradation by mitophagy
Mitochondria / Autophagy / Apoptosis / Western blotting / Humans / Reactive Oxygen Species / Mice / Animals / Electron Transport / Biological markers / Cell Proliferation / Human Fibroblasts / Cell Survival / Syndrome / Coenzyme Q / Biochemistry and cell biology / Gene Expression Regulation / Reactive Oxygen Species / Mice / Animals / Electron Transport / Biological markers / Cell Proliferation / Human Fibroblasts / Cell Survival / Syndrome / Coenzyme Q / Biochemistry and cell biology / Gene Expression Regulation
Cortical periventricular heterotopia with ectodermal dysplasia
Genetics / Magnetic Resonance Imaging / Humans / Child / Cerebral Cortex / Female / Male / American / Clinical Sciences / Family Health / Syndrome / Contractile Proteins / Ectodermal Dysplasia / Female / Male / American / Clinical Sciences / Family Health / Syndrome / Contractile Proteins / Ectodermal Dysplasia
«
1
2
3
4
5
6
7
8
9
»
Copyright © 2017 DATOSPDF Inc.
