Phenotype - Page 9

Lactase Persistence in Central Asia: Phenotype, Genotype, and Evolution

Genetics / Polymorphism / Molecular Evolution / Life Style / Low Frequency / Natural Selection / Human / Human Biology / Humans / Blood Glucose / Lactose intolerance / Pastoralism / Phenotype / Ethnic Groups / Questionnaires / Genotype / Ethnic Group / Genetic variation / Natural Selection / Human / Human Biology / Humans / Blood Glucose / Lactose intolerance / Pastoralism / Phenotype / Ethnic Groups / Questionnaires / Genotype / Ethnic Group / Genetic variation

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Red cells from ferrochelatase-deficient erythropoietic protoporphyria patients are resistant to growth of malarial parasites

Humans / Mice / Female / Animals / Blood / Male / Heme / Phenotype / Clinical Sciences / Erythrocytes / Plasmodium berghei / Male / Heme / Phenotype / Clinical Sciences / Erythrocytes / Plasmodium berghei

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N-Acetyltransferase Polymorphism Among Northern Sudanese

Genetics / Geography / Polymorphism / Drug metabolism / Adolescent / Low Frequency / Sudan / Human Biology / Humans / Child / Haplotypes / Female / Male / Polymerase Chain Reaction / Phenotype / Enzyme / Arylamine N-acetyltransferase / Middle Aged / Genotype / Adult / Single Nucleotide Polymorphism / Adverse Drug Reaction / Molecular Computers / Drug Toxicity / Computational Method / Allele Frequency / Low Frequency / Sudan / Human Biology / Humans / Child / Haplotypes / Female / Male / Polymerase Chain Reaction / Phenotype / Enzyme / Arylamine N-acetyltransferase / Middle Aged / Genotype / Adult / Single Nucleotide Polymorphism / Adverse Drug Reaction / Molecular Computers / Drug Toxicity / Computational Method / Allele Frequency

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Opposite effects on facial morphology due to gene dosage sensitivity

Genetics / Human Genetics / Complementary and Alternative Medicine / Face / Adolescent / Humans / Child / Female / Male / Three Dimensional Imaging / Gene Duplication / Gene Dosage / Phenotype / Adult / European Continental Ancestry Group / Chromosome Disorders / Case Control Studies / Humans / Child / Female / Male / Three Dimensional Imaging / Gene Duplication / Gene Dosage / Phenotype / Adult / European Continental Ancestry Group / Chromosome Disorders / Case Control Studies

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Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency

Mitochondria / Humans / Fatty acids / Mutation / Male / Fatty Acid Oxidation / Phenotype / Enzyme / Clinical Sciences / L-carnitine / Spectrum / Prognosis / Multienzyme complexes / Cardiomyopathies / Human Fibroblasts / Clinical Presentation / Rhabdomyolysis / Fatty Acid Oxidation / Phenotype / Enzyme / Clinical Sciences / L-carnitine / Spectrum / Prognosis / Multienzyme complexes / Cardiomyopathies / Human Fibroblasts / Clinical Presentation / Rhabdomyolysis

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Pathophysiological characterization of asthma transitions across adolescence

Asthma / Adolescent / Multivariate Analysis / Humans / Child / Female / Male / Infant / Risk factors / Lung / Phenotype / Clinical Sciences / Great Britain / Respiratory / Odds ratio / Prognosis / Disease Progression / Risk Factors / Logistic Models / Age of Onset / Cohort Studies / Female / Male / Infant / Risk factors / Lung / Phenotype / Clinical Sciences / Great Britain / Respiratory / Odds ratio / Prognosis / Disease Progression / Risk Factors / Logistic Models / Age of Onset / Cohort Studies

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Pseudoxanthoma Elasticum-Like Phenotype with Cutis Laxa and Multiple Coagulation Factor Deficiency Represents a Separate Genetic Entity

Genetics / Visual acuity / Humans / Blood Coagulation Factors / Female / Male / Skin / Phenotype / Skin Diseases / Enzyme / Clinical Sciences / Middle Aged / Adult / Dermis / INVESTIGATIVE / Electron Microscope / Male / Skin / Phenotype / Skin Diseases / Enzyme / Clinical Sciences / Middle Aged / Adult / Dermis / INVESTIGATIVE / Electron Microscope

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Mutator phenotype of mammalian cells due to deficiency of NEIL1 DNA glycosylase, an oxidized base-specific repair enzyme

DNA replication / DNA damage / DNA repair / Cell line / Humans / Mutation / Animals / Phenotype / Enzyme / Functional integration / Specific Activity / Oxidative Damage / Antisense Oligonucleotide Drugs / Base Sequence / Oxidation-Reduction / Biochemistry and cell biology / Mutation / Animals / Phenotype / Enzyme / Functional integration / Specific Activity / Oxidative Damage / Antisense Oligonucleotide Drugs / Base Sequence / Oxidation-Reduction / Biochemistry and cell biology

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Immunological phenotypic pattern of acute lymphoblastic leukaemia in Egypt

Egypt / Leukemia / Adolescent / Humans / Child / Female / Male / Acute Lymphoblastic Leukaemia / Infant / Monoclonal Antibodies / Phenotype / Clinical Sciences / Middle Aged / Adult / Sex Factors / Female / Male / Acute Lymphoblastic Leukaemia / Infant / Monoclonal Antibodies / Phenotype / Clinical Sciences / Middle Aged / Adult / Sex Factors

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Phenylalanine hydroxylase deficiency: Molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients

Polymorphism / Molecular Genetics / Molecular Epidemiology / Portugal / Humans / Haplotypes / Phenylketonuria / Genetic Association Studies / Phenotype / Clinical Sciences / Spectrum / Genomic DNA / Molecular Characterization / Phenylalanine hydroxylase / Haplotypes / Phenylketonuria / Genetic Association Studies / Phenotype / Clinical Sciences / Spectrum / Genomic DNA / Molecular Characterization / Phenylalanine hydroxylase

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Phenylalanine hydroxylase deficiency: Molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients

Polymorphism / Molecular Genetics / Molecular Epidemiology / Portugal / Humans / Haplotypes / Phenylketonuria / Genetic Association Studies / Phenotype / Clinical Sciences / Spectrum / Genomic DNA / Molecular Characterization / Phenylalanine hydroxylase / Haplotypes / Phenylketonuria / Genetic Association Studies / Phenotype / Clinical Sciences / Spectrum / Genomic DNA / Molecular Characterization / Phenylalanine hydroxylase

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PLASTICITY VERSUS ENVIRONMENTAL CANALIZATION: POPULATION DIFFERENCES IN THERMAL RESPONSES ALONG A LATITUDINAL GRADIENT IN DROSOPHILA SERRATA

Evolutionary Biology / Australia / Evolution / Population Dynamics / Climate / Phenotypic Plasticity / Drosophila / Female / Animals / Male / Phenotype / Latitudinal Gradient / Wing / Phenotypic Plasticity / Drosophila / Female / Animals / Male / Phenotype / Latitudinal Gradient / Wing

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Neonatal screening for glutaryl-CoA dehydrogenase deficiency

DNA / Humans / Tandem Mass Spectrometry / Newborn Screening / Phenotype / Clinical Sciences / Newborn Infant / Brain Damage / Clinical Sciences / Newborn Infant / Brain Damage

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LADA and T1D in Estonian population — Two different genetic risk profiles

Genetics / Population Genetics / Molecular Evolution / Risk / Transcription Factors / Humans / Insulin / Estonia / Haplotypes / Female / Male / Young Adult / Gene / Phenotype / Middle Aged / Snp / Adult / VNTR / European Continental Ancestry Group / Type 2 Diabetes Mellitus / Age of Onset / Humans / Insulin / Estonia / Haplotypes / Female / Male / Young Adult / Gene / Phenotype / Middle Aged / Snp / Adult / VNTR / European Continental Ancestry Group / Type 2 Diabetes Mellitus / Age of Onset

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INCREASED SIZE EXCLUSION LIMIT2 Encodes a Putative DEVH Box RNA Helicase Involved in Plasmodesmata Function during Arabidopsis Embryogenesis

Genetics / Plant Biology / Plasmodesmata / Gene expression / Gene Silencing / Protein Structure and Function / Mutation / Arabidopsis / Phenotype / Molecular cloning / microRNAs / Embryonic Development / Seeds / Seedling / Biological markers / Plant cell / Subcellular Fractions / Cell Fate / Embryos / Protein Transport / Biochemistry and cell biology / Down-Regulation / Protein Structure and Function / Mutation / Arabidopsis / Phenotype / Molecular cloning / microRNAs / Embryonic Development / Seeds / Seedling / Biological markers / Plant cell / Subcellular Fractions / Cell Fate / Embryos / Protein Transport / Biochemistry and cell biology / Down-Regulation

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Signatures of cinnamyl alcohol dehydrogenase deficiency in poplar lignins

Organic Chemistry / Phytochemistry / Biological Sciences / Populus / Wood / Lignin / Solubility / Phenotype / Enzyme / CHEMICAL SCIENCES / Room Temperature / Gas Chromatography/mass Spectrometry / Populus Deltoides / Sodium Hydroxide / Alcohol Dehydrogenase / Molecular Structure / Down-Regulation / acrolein / Lignin / Solubility / Phenotype / Enzyme / CHEMICAL SCIENCES / Room Temperature / Gas Chromatography/mass Spectrometry / Populus Deltoides / Sodium Hydroxide / Alcohol Dehydrogenase / Molecular Structure / Down-Regulation / acrolein

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