Manifestations clinical homozygote. Medical search. Frequent questions

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Anatomy6

Brain Skin Liver Chromosomes Embryo, Mammalian Cells, Cultured

Organisms9

Mice, Mutant Strains Mice, Inbred C57BL Mice, Knockout Mice, Transgenic Drosophila melanogaster Mice, Neurologic Mutants Mice, Inbred Strains Shrews Mice, Inbred C3H

Diseases62

Genetic Predisposition to Disease Hemochromatosis Hyperlipoproteinemia Type II Albinism Syndrome Gaucher Disease Skin Diseases Neurologic Manifestations Mouth Diseases Lupus Erythematosus, Systemic Xanthomatosis Eye Diseases Eye Manifestations Ataxia Telangiectasia Lupus Vasculitis, Central Nervous System Hyperlipoproteinemia Type III Abnormalities, Multiple Disease Models, Animal Thalassemia Otorhinolaryngologic Diseases Oral Ulcer alpha 1-Antitrypsin Deficiency Skin Manifestations Metabolism, Inborn Errors Familial Mediterranean Fever Behcet Syndrome Nervous System Diseases alpha-Thalassemia Cystic Fibrosis Skin Diseases, Vascular Sarcoidosis Polycythemia Gilbert Disease Disease Progression Disease Susceptibility Hemoglobinopathies Hypolipoproteinemias Eye Abnormalities Embryo Loss Polydactyly Siderosis Antiphospholipid Syndrome Vasculitis Anemia, Hemolytic Dwarfism Lipid Metabolism, Inborn Errors Fetal Death Autoimmune Diseases Rheumatic Diseases Liver Diseases Brain Diseases Anemia, Sickle Cell Diabetes Mellitus, Type 2 Neural Tube Defects Paraneoplastic Syndromes Erythema Nodosum Arthritis Wolman Disease Lecithin Acyltransferase Deficiency Cryoglobulinemia Arthritis, Rheumatoid Limb Deformities, Congenital

Chemicals and Drugs58

Apolipoprotein E2 Catechol O-Methyltransferase Methylenetetrahydrofolate Reductase (NADPH2)Genetic Markers DNA Membrane Proteins Ferritins Histocompatibility Antigens Class I Hemoglobin E Apolipoproteins E Hemoglobins, Abnormal DNA Primers Ethylnitrosourea Oxidoreductases Acting on CH-NH Group Donors Valine Apolipoproteins A Peptidyl-Dipeptidase A Transferrin Apolipoprotein E4 Serotonin Plasma Membrane Transport Proteins Cholesterol Codon Iron RNA, Messenger Apolipoprotein C-III Glucosylceramidase Carrier Proteins Fetal Hemoglobin Lipids Autoantibodies Homocysteine HLA Antigens Lipoproteins Biological Markers Cystic Fibrosis Transmembrane Conductance Regulator Antibodies, Antinuclear Triglycerides Factor V Proline Aryl Hydrocarbon Hydroxylases Apolipoproteins B Apolipoprotein A-I Cholesterol, HDL Deoxyribonucleases, Type II Site-Specific Sitosterols Codon, Nonsense Folic Acid Apolipoproteins C Lipoproteins, LDL Cholesterol Ester Transfer Proteins Proteins Globins Prothrombin alpha 1-Antitrypsin DNA-Binding Proteins Apolipoprotein E3 MNSs Blood-Group System Arginine

Analytical, Diagnostic and Therapeutic Techniques and Equipment39

Case-Control Studies Heterozygote Detection Pedigree Polymerase Chain Reaction Risk Factors Crosses, Genetic Genetic Association Studies Genetic Testing DNA Mutational Analysis Magnetic Resonance Imaging Cohort Studies Chromosome Mapping Amino Acid Substitution Severity of Illness Index Retrospective Studies Models, Genetic Tomography, X-Ray Computed Disease Models, Animal Fatal Outcome Prevalence Odds Ratio Reference Values Prospective Studies Treatment Outcome Sequence Analysis, DNA Risk Follow-Up Studies Analysis of Variance Biopsy Gene Targeting Incidence Genotyping Techniques Prognosis Inbreeding Electrophoresis, Starch Gel Cross-Sectional Studies Chi-Square Distribution Risk Assessment Blotting, Southern

Psychiatry and Psychology2

Smoking Siblings

Phenomena and Processes55

Homozygote Heterozygote Genotype Polymorphism, Genetic Alleles Gene Frequency Genetic Predisposition to Disease Phenotype Mutation Polymorphism, Single Nucleotide Haplotypes Genetic Variation Genes, Lethal Genes, Recessive Polymorphism, Restriction Fragment Length Base Sequence Point Mutation Mutation, Missense Genetic Markers Genes, Dominant Linkage Disequilibrium Exons Genetic Linkage Amino Acid Substitution Time Factors Odds Ratio Promoter Regions, Genetic Hair Color Gene Deletion Penetrance Consanguinity Risk Codon Genes Eye Color Pregnancy Amino Acid Sequence Disease Susceptibility Genetic Heterogeneity Frameshift Mutation Sequence Deletion Microsatellite Repeats Gene Expression Selection, Genetic Inbreeding Introns Epistasis, Genetic Founder Effect Chromosomes Codon, Nonsense Chi-Square Distribution Polymorphism, Single-Stranded Conformational Aging Gene Expression Regulation Embryonic and Fetal Development

Disciplines and Occupations1

Genetics, Population

Anthropology, Education, Sociology and Social Phenomena1

Information Science7

Base Sequence Molecular Sequence Data Fatal Outcome Prevalence Amino Acid Sequence Incidence Publication Bias

Named Groups8

Asian Continental Ancestry Group European Continental Ancestry Group Jews Infant, Newborn Ethnic Groups African Continental Ancestry Group Arabs Siblings

Health Care22

Case-Control Studies Risk Factors Genetic Testing Age of Onset Cohort Studies Severity of Illness Index Retrospective Studies Fatal Outcome Prevalence Odds Ratio Prospective Studies Treatment Outcome Risk Follow-Up Studies Family Health Analysis of Variance Sex Factors Ethnic Groups Incidence Cross-Sectional Studies Chi-Square Distribution Risk Assessment

Geographicals5

China Japan Czech Republic Italy Israel

Anatomy Organisms Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Phenomena and Processes Disciplines and Occupations Information Science Named Groups Health Care Geographicals

Homozygote Heterozygote Genotype Polymorphism, Genetic Alleles Gene Frequency Genetic Predisposition to Disease Phenotype Mutation Polymorphism, Single Nucleotide Hemochromatosis Case-Control Studies Haplotypes Heterozygote Detection Pedigree Genetic Variation Mice, Mutant Strains Genes, Lethal Polymerase Chain Reaction Genes, Recessive Risk Factors Apolipoprotein E2 Hyperlipoproteinemia Type II Catechol O-Methyltransferase Polymorphism, Restriction Fragment Length Base Sequence Albinism Methylenetetrahydrofolate Reductase (NADPH2)Point Mutation Crosses, Genetic Genetic Association Studies Syndrome Gaucher Disease Genetic Testing Skin Diseases Neurologic Manifestations DNA Mutational Analysis Asian Continental Ancestry Group Molecular Sequence Data Mouth Diseases Mutation, Missense Genetic Markers Genes, Dominant Linkage Disequilibrium Exons Age of Onset Lupus Erythematosus, Systemic Magnetic Resonance Imaging Genetic Linkage European Continental Ancestry Group Cohort Studies Xanthomatosis Chromosome Mapping Eye Diseases Amino Acid Substitution Eye Manifestations Ataxia Telangiectasia Jews Severity of Illness Index DNA Retrospective Studies Lupus Vasculitis, Central Nervous System Membrane Proteins Ferritins Histocompatibility Antigens Class I Models, Genetic Hyperlipoproteinemia Type III Abnormalities, Multiple Hemoglobin E Tomography, X-Ray Computed Disease Models, Animal Thalassemia Apolipoproteins E Hemoglobins, Abnormal Otorhinolaryngologic Diseases Time Factors DNA Primers Oral Ulcer alpha 1-Antitrypsin Deficiency Fatal Outcome Prevalence Skin Manifestations Odds Ratio Infant, Newborn Promoter Regions, Genetic Mice, Inbred C57BL Reference Values Hair Color Ethylnitrosourea Brain Prospective Studies Oxidoreductases Acting on CH-NH Group Donors Metabolism, Inborn Errors Mice, Knockout Treatment Outcome Familial Mediterranean Fever Valine China Apolipoproteins A Behcet Syndrome

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