Genotype - Page 5

Clinical features of facioscapulohumeral muscular dystrophy 2

Cognitive Science / Neurology / Adolescent / Humans / Child / Muscular Dystrophy / Female / Male / Gender Difference / DNA methylation / Young Adult / Infant / Disease Severity / Phenotype / Chromatin structure / Clinical Sciences / Newborn Infant / Middle Aged / Family Health / Genotype / Adult / Clinical Assessment / Cross sectional Study / Clinical Presentation / Cross Sectional Studies / Neurosciences / Clinical evaluation / Cohort Studies / Muscular Dystrophy / Female / Male / Gender Difference / DNA methylation / Young Adult / Infant / Disease Severity / Phenotype / Chromatin structure / Clinical Sciences / Newborn Infant / Middle Aged / Family Health / Genotype / Adult / Clinical Assessment / Cross sectional Study / Clinical Presentation / Cross Sectional Studies / Neurosciences / Clinical evaluation / Cohort Studies

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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

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Congenital Adrenal Hyperplasia due to 21Hydroxylase Deficiency

Physiology / Nursing / Kinetics / Quality of life / Pediatric nursing / Adolescent / Multidisciplinary / Screening / Cortisol / Pregnancy / Humans / Child / Mutation / Puberty / Female / Male / Disorders of sex development / Mutation Detection / Gene Conversion / Phenotype / Enzyme / Clinical Sciences / Newborn Infant / Optometry and Ophthalmology / Genotype / Adult / Congenital Adrenal Hyperplasia / Public health systems and services research / Prenatal Diagnosis / Amino Acid Sequence / Base Sequence / Structure activity Relationship / Enzymatic Activity / Glucocorticoids / Biochemistry and cell biology / Adolescent / Multidisciplinary / Screening / Cortisol / Pregnancy / Humans / Child / Mutation / Puberty / Female / Male / Disorders of sex development / Mutation Detection / Gene Conversion / Phenotype / Enzyme / Clinical Sciences / Newborn Infant / Optometry and Ophthalmology / Genotype / Adult / Congenital Adrenal Hyperplasia / Public health systems and services research / Prenatal Diagnosis / Amino Acid Sequence / Base Sequence / Structure activity Relationship / Enzymatic Activity / Glucocorticoids / Biochemistry and cell biology

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Serotonin transporter deficiency in rats contributes to impaired object memory

Polymorphism / Face recognition (Psychology) / Biological Sciences / Serotonin / Brain / Animals / Serotonin Transporter / Object Recognition / Depressive Disorder / Genotype / Rats / Acute Tryptophan Depletion / Memory Disorders / Brain Chemistry / Cognition disorders / Animals / Serotonin Transporter / Object Recognition / Depressive Disorder / Genotype / Rats / Acute Tryptophan Depletion / Memory Disorders / Brain Chemistry / Cognition disorders

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estMOI: estimating multiplicity of infection using parasite deep sequencing data

Bioinformatics / Algorithms / Biological Sciences / Software / Humans / Mathematical Sciences / Animals / Genotype / Plasmodium falciparum / Mathematical Sciences / Animals / Genotype / Plasmodium falciparum

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Phenotypic and Genotypic Characteristics of Persistent Methicillin‐Resistant Staphylococcus aureus Bacteremia In Vitro and in an Experimental Endocarditis Model

Plant Biology / Medical Microbiology / Poland / Antibiotic Resistance / Hospitals / Biological Sciences / Vancomycin / Humans / Animals / Polymerase Chain Reaction / DNA fingerprinting / Phenotype / Pseudomonas aeruginosa / Anti-Bacterial Agents / Genotype / Methicillin Resistance / Bacteremia / Microbial Sensitivity Tests / Pseudomonas Aeruginosa / Rabbits / Cross-infection / Methicillin Resistant Staphylococcus Aureus / Serotyping / Biological Sciences / Vancomycin / Humans / Animals / Polymerase Chain Reaction / DNA fingerprinting / Phenotype / Pseudomonas aeruginosa / Anti-Bacterial Agents / Genotype / Methicillin Resistance / Bacteremia / Microbial Sensitivity Tests / Pseudomonas Aeruginosa / Rabbits / Cross-infection / Methicillin Resistant Staphylococcus Aureus / Serotyping

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Quantitative genetics of larval life-history traits in Rana temporaria in different environmental conditions

Genetics / Geography / Population Genetics / Quantitative Genetics / Animals / Temperature / Phenotype / GENETICAL / Genotype / Environmental Conditions / Time Factors / Reproducibility of Results / Genetic variation / Environment / Rana temporaria / Temperature / Phenotype / GENETICAL / Genotype / Environmental Conditions / Time Factors / Reproducibility of Results / Genetic variation / Environment / Rana temporaria

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Genotipos y epidemiología de aislamientos clínicos de Cryptococcus neoformans en Corrientes, Argentina

Argentina / Humans / Cryptococcus Neoformans / Female / Male / Aged / Middle Aged / Genotype / Adult / Cryptococcosis / Aged / Middle Aged / Genotype / Adult / Cryptococcosis

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Dopamine Transporter Genetic Variants and Pesticides in Parkinson’s Disease

Genetics / Environmental Health / Environmental Sciences / Humans / Pesticides / Female / Male / Risk factors / Paraquat / Middle Aged / Genotype / Dopamine Transporter / Genetic variation / Risk Factors / Environmental Pollutants / Environmental Exposure / Parkinson Disease / Case Control Studies / Female / Male / Risk factors / Paraquat / Middle Aged / Genotype / Dopamine Transporter / Genetic variation / Risk Factors / Environmental Pollutants / Environmental Exposure / Parkinson Disease / Case Control Studies

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Clinical presentation of chronic traumatic encephalopathy

Cognitive Science / Neurology / Neuroimaging / Adolescent / Humans / Chronic Disease / Male / Young Adult / Clinical Sciences / Aged / Middle Aged / Genotype / Adult / Disease Progression / Neurosciences / Cognition disorders / Behavioral symptoms / Brain injuries / Chronic Disease / Male / Young Adult / Clinical Sciences / Aged / Middle Aged / Genotype / Adult / Disease Progression / Neurosciences / Cognition disorders / Behavioral symptoms / Brain injuries

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Glutathione S-transferase M1, T1, and P1 gene polymorphism in laryngeal squamous cell carcinoma

Rheumatology / Polymorphism / Rheumatoid Arthritis / Oxidative Stress / Macular Degeneration / Humans / Korea / Smoking / Ultrasonography / Female / Male / Polymerase Chain Reaction / Glutathione / Squamous Cell Carcinoma / American / Gene / Risk factors / Health Status / Clinical Sciences / Aged / Middle Aged / Gene Polymorphism / Oral Squamous Cell Carcinoma (OSCC) / Gen / Optometry and Ophthalmology / Genotype / Adult / Genetic Polymorphism / Risk Factors / The Carotid Artery Intima Media Thickness / Glutathione Transferase / Exudates and Transudates / Case Control Studies / The The / Humans / Korea / Smoking / Ultrasonography / Female / Male / Polymerase Chain Reaction / Glutathione / Squamous Cell Carcinoma / American / Gene / Risk factors / Health Status / Clinical Sciences / Aged / Middle Aged / Gene Polymorphism / Oral Squamous Cell Carcinoma (OSCC) / Gen / Optometry and Ophthalmology / Genotype / Adult / Genetic Polymorphism / Risk Factors / The Carotid Artery Intima Media Thickness / Glutathione Transferase / Exudates and Transudates / Case Control Studies / The The

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Efficient Genotype Elimination via Adaptive Allele Consolidation

Genetics / Algorithms / Computational Biology / Biological Sciences / Humans / Computer Simulation / Mathematical Sciences / Haplotypes / Female / Male / Pedigree / High performance / Genotype / Linkage Analysis / Founder Effect / Inheritance Patterns / Computer Simulation / Mathematical Sciences / Haplotypes / Female / Male / Pedigree / High performance / Genotype / Linkage Analysis / Founder Effect / Inheritance Patterns

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Progressive Endoplasmic Reticulum Stress Contributes to Hepatocarcinogenesis in Fatty Acyl-CoA Oxidase 1–Deficient Mice

Endoplasmic Reticulum Stress / Humans / Liver / Mice / Animals / Endoplasmic Reticulum / Genotype / Hepatocytes / DNA binding proteins / Gene Expression Regulation / Endoplasmic Reticulum / Genotype / Hepatocytes / DNA binding proteins / Gene Expression Regulation

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Immunogenetic Control of Antibody Responsiveness in a Malaria Endemic Area

Immunology / Immune response / Polymorphism / Tanzania / T cell receptor / Antibodies / Association study / Humans / Haplotypes / Endemic Diseases / Immunoglobulin E / IL / Association / Genotype / IGE / Major histocompatibility complex / Plasmodium falciparum / Human Immunology / TDT / Antigen / immunoglobulin G / Interleukin / Antibodies / Association study / Humans / Haplotypes / Endemic Diseases / Immunoglobulin E / IL / Association / Genotype / IGE / Major histocompatibility complex / Plasmodium falciparum / Human Immunology / TDT / Antigen / immunoglobulin G / Interleukin

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Environmental variation, hybridization, and phenotypic diversification in Cuatro Ciénegas pupfishes

Evolutionary Biology / Zoology / Phenotypic Plasticity / Mexico / Animals / Introgression / Phenotype / Genotype / Fresh water / MEXICO / Killifishes / Species Specificity / Environment / Introgression / Phenotype / Genotype / Fresh water / MEXICO / Killifishes / Species Specificity / Environment

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‘An atypical pattern of HCV INNO-LiPA™ subtype’

Microbiology / Medical Microbiology / Hepatitis C / Clinical Virology / Humans / Female / Polymerase Chain Reaction / Clinical Sciences / Middle Aged / Genotype / Immunoassay / Female / Polymerase Chain Reaction / Clinical Sciences / Middle Aged / Genotype / Immunoassay

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