Phenotype

Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism

Genetics / Cognitive Science / Pediatrics / Transcranial Magnetic Stimulation / Neurogenetics / Intellectual Disability / Subthalamic Nucleus / DNA / Humans / Mutation / Female / Clinical Genetics / Inborn errors of metabolism / Male / Infant / Follow-up studies / Differential Diagnosis / Phenotype / Child Neurology / Clinical Sciences / Mouse Model / Genotype / Adult / Globus Pallidus / Sleep Disorder / Status Epilepticus / Base Sequence / NAD / Lymphocytes / Neurosciences / Gamma-Aminobutyric Acid / Ketogenic diet / Intellectual Disability / Subthalamic Nucleus / DNA / Humans / Mutation / Female / Clinical Genetics / Inborn errors of metabolism / Male / Infant / Follow-up studies / Differential Diagnosis / Phenotype / Child Neurology / Clinical Sciences / Mouse Model / Genotype / Adult / Globus Pallidus / Sleep Disorder / Status Epilepticus / Base Sequence / NAD / Lymphocytes / Neurosciences / Gamma-Aminobutyric Acid / Ketogenic diet

Déficit de alfa-1-antitripsina asociado a la variante Matawa

Humans / Female / Phenotype / Clinical Sciences / Aged / Middle Aged / Base Sequence / Alpha-1 Antitrypsin / Middle Aged / Base Sequence / Alpha-1 Antitrypsin

A three-dimensional model of vasculogenesis

Biomaterials / Scanning Electron Microscopy / Confocal Microscopy / Multidisciplinary / Cell Differentiation / Smooth muscle / Endothelial Cells / Animals / Bone marrow / Phenotype / Cattle / Rats / Stromal Cells / Biological markers / Immunophenotyping / Vascular Endothelial Function / Bone Marrow Cells / Gene Expression Regulation / Smooth muscle / Endothelial Cells / Animals / Bone marrow / Phenotype / Cattle / Rats / Stromal Cells / Biological markers / Immunophenotyping / Vascular Endothelial Function / Bone Marrow Cells / Gene Expression Regulation

Clinical and Genetic Heterogeneity in Familial Temporal Lobe Epilepsy

Humans / Temporal Lobe Epilepsy / Phenotype / Genetic linkage analysis / Epilepsia / Clinical Sciences / Genotype / Chromosome segregation / Genetic variation / Neurosciences / Clinical Sciences / Genotype / Chromosome segregation / Genetic variation / Neurosciences

A Particular Phenotype in a Girl with Aldosterone Synthase Deficiency

Molecular Biology / Humans / Mutation / Female / Clinical / Polymerase Chain Reaction / Phenotype / Clinical Sciences / Newborn Infant / Glutamine / Glutamic Acid / Polymerase Chain Reaction / Phenotype / Clinical Sciences / Newborn Infant / Glutamine / Glutamic Acid

Dental Abnormalities in a Mouse Model for Craniometaphyseal Dysplasia

Dentistry / Apoptosis / Mice / Animals / Osteoclasts / Dental / Phenotype / Tooth Root / Incisor / Tooth Eruption / Cell Shape / Bone remodeling / DENTAL CEMENTUM / Cell Proliferation / Somatic Cell Count / Extracellular Matrix Proteins / Dental / Phenotype / Tooth Root / Incisor / Tooth Eruption / Cell Shape / Bone remodeling / DENTAL CEMENTUM / Cell Proliferation / Somatic Cell Count / Extracellular Matrix Proteins

Mice with Mitochondrial Complex I Deficiency Develop a Fatal Encephalomyopathy

Skeletal muscle biology / Survival Analysis / Mitochondria / Liver / Mice / Female / Animals / Phenotype / Time Factors / Oxygen Consumption / Biochemistry and cell biology / Female / Animals / Phenotype / Time Factors / Oxygen Consumption / Biochemistry and cell biology

CO2 production from galactose in galactose-1-phosphate uridyl transferase-deficient Escherichia coli

Bacteriology / Carbon Dioxide / Biological Sciences / Mutation / Escherichia coli / Phenotype

Endoplasmic reticulum resident protein 44 (ERp44) deficiency in mice and zebrafish leads to cardiac developmental and functional defects

Membrane Proteins / Endoplasmic Reticulum Stress / Morphogenesis / Apoptosis / Molecular chaperones / Congenital Heart Defects / Reactive Oxygen Species / Animals / Endoplasmic Reticulum / Calcium Signaling / Embryonic Stem Cells / Phenotype / Time Factors / Zebrafish / Congenital Heart Defects / Reactive Oxygen Species / Animals / Endoplasmic Reticulum / Calcium Signaling / Embryonic Stem Cells / Phenotype / Time Factors / Zebrafish

Detección fenotípica de mecanismos de resistencia en microorganismos gramnegativos

Medical Microbiology / Humans / Microbial genetic and drug resistance / Aminoglycosides / Neisseria / Phenotype / Enzyme / Spectrum / Gram-negative bacteria / Anti-Bacterial Agents / Dna Gyrase / Beta Lactams / Microbial Sensitivity Tests / Fluoroquinolones / Haemophilus influenzae / Phenotype / Enzyme / Spectrum / Gram-negative bacteria / Anti-Bacterial Agents / Dna Gyrase / Beta Lactams / Microbial Sensitivity Tests / Fluoroquinolones / Haemophilus influenzae

Clinical and Genetic Heterogeneity in Familial Temporal Lobe Epilepsy

Humans / Temporal Lobe Epilepsy / Phenotype / Genetic linkage analysis / Epilepsia / Clinical Sciences / Genotype / Chromosome segregation / Genetic variation / Neurosciences / Clinical Sciences / Genotype / Chromosome segregation / Genetic variation / Neurosciences

Environmental and Genetic Contribution to Hypertension Prevalence: Data from an Epidemiological Survey on Sardinian Genetic Isolates

Multidisciplinary / Italy / Humans / Hypertension / Smoking / Blood Pressure / Cholesterol / Female / Alcohol Drinking / Male / Regression Analysis / Heart rate / Risk factors / Phenotype / PLoS one / Prevalence / Sex Factors / Age Factors / Educational Status / Body Weight / Risk Factors / Cross Sectional Studies / Blood Pressure / Cholesterol / Female / Alcohol Drinking / Male / Regression Analysis / Heart rate / Risk factors / Phenotype / PLoS one / Prevalence / Sex Factors / Age Factors / Educational Status / Body Weight / Risk Factors / Cross Sectional Studies

Single-Access Fetal Endoscopy (SAFE) for myelomeningocele in sheep model I: amniotic carbon dioxide gas approach

Carbon Dioxide / Pregnancy / Collagen / Female / Animals / Feasibility Studies / Phenotype / Behavioral Animal Models / Clinical Sciences / Arnold Chiari Malformation / Amnion / Feasibility Studies / Phenotype / Behavioral Animal Models / Clinical Sciences / Arnold Chiari Malformation / Amnion

Control of Cleavage Cycles in Drosophila Embryos by frühstart

Cell Cycle / Drosophila melanogaster / In Situ Hybridization / Cell Division / Biological Sciences / Protein Kinases / Female / Animals / Male / Oscillations / Phenotype / Cell Cycle Proteins / Embryos / Protein Kinases / Female / Animals / Male / Oscillations / Phenotype / Cell Cycle Proteins / Embryos

Kaiso-Deficient Mice Show Resistance to Intestinal Cancer

Cellular Biology / Transcription Factors / Gene expression / Biological Sciences / Cell Differentiation / Molecular and cellular biology / Mice / Animals / Neurons / Phenotype / Colon cancer / Xenopus laevis / Gene Targeting / Molecular and cellular biology / Mice / Animals / Neurons / Phenotype / Colon cancer / Xenopus laevis / Gene Targeting

Origin recognition complex (ORC) in transcriptional silencing and DNA replication in S. cerevisiae

Science / Cell Cycle / DNA replication / Multidisciplinary / Biological Sciences / Saccharomyces cerevisiae / Mutation / Plasmids / Phenotype / Molecular cloning / Cell Cycle Arrest / Amino Acid Sequence / DNA binding proteins / Saccharomyces cerevisiae / Mutation / Plasmids / Phenotype / Molecular cloning / Cell Cycle Arrest / Amino Acid Sequence / DNA binding proteins

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