Monogenic gene defects. Medical search. Frequent questions

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Anatomy28

X Chromosome Fibroblasts Cell Line Cells, Cultured Surgical Flaps Skull Embryo, Mammalian Embryo, Nonmammalian Heart Abdominal Wall Cilia Femur Cartilage, Articular Mitochondria Neural Crest Fetal Heart Heart Septum Cell Nucleus Spindle Apparatus Mesoderm Bone and Bones Neurons Branchial Region HeLa Cells B-Lymphocytes Stem Cells T-Lymphocytes Cell Membrane

Organisms14

Mice, Mutant Strains Mice, Knockout Mice, Inbred C57BL Saccharomyces cerevisiae Zebrafish Mice, Transgenic Animals, Genetically Modified Caenorhabditis elegans Drosophila Drosophila melanogaster Escherichia coli Arabidopsis Larva Schizosaccharomyces

Diseases51

Porphyrias Agammaglobulinemia Syndrome Mitochondrial Diseases Hypolipoproteinemias Abnormalities, Multiple Heart Septal Defects, Ventricular Heart Defects, Congenital Hyperlipoproteinemia Type II Heart Septal Defects, Atrial Genetic Predisposition to Disease Retinal Degeneration Disease Models, Animal Heart Septal Defects Congenital Abnormalities Endocardial Cushion Defects Furcation Defects Limb Deformities, Congenital Craniofacial Abnormalities Anencephaly Cartilage Diseases Eye Abnormalities Abnormalities, Drug-Induced Color Vision Defects Cardiovascular Abnormalities Spinal Dysraphism Hernia, Umbilical Cleft Palate Metabolism, Inborn Errors Immunologic Deficiency Syndromes Cleft Lip Dental Enamel Hypoplasia Encephalocele Aortopulmonary Septal Defect Nervous System Malformations Fetal Diseases Hemianopsia Embryo Loss Vision Disorders Skin Abnormalities Fetal Death Hernia Musculoskeletal Abnormalities Microphthalmos Spina Bifida Occulta Down Syndrome Alveolar Bone Loss Hernia, Diaphragmatic Urogenital Abnormalities Scotoma Bone Diseases

Chemicals and Drugs38

Hydroxymethylbilane Synthase Codon, Nonsense MutS Homolog 2 Protein DNA Genetic Markers DNA Primers Nuclear Proteins DNA-Binding Proteins Membrane Proteins Carrier Proteins RNA, Messenger Saccharomyces cerevisiae Proteins Transcription Factors Fungal Proteins Bone Substitutes Drosophila Proteins Zebrafish Proteins Homeodomain Proteins Caenorhabditis elegans Proteins Protein-Serine-Threonine Kinases Nerve Tissue Proteins Proteins Repressor Proteins Recombinant Fusion Proteins Biocompatible Materials Folic Acid Thallium Radioisotopes Green Fluorescent Proteins Arabidopsis Proteins Actins Bone Morphogenetic Protein 2 Mutant Proteins Adaptor Proteins, Signal Transducing Teratogens Adenosine Triphosphatases Intracellular Signaling Peptides and Proteins Microtubule-Associated Proteins Bone Morphogenetic Proteins

Analytical, Diagnostic and Therapeutic Techniques and Equipment49

Pedigree DNA Mutational Analysis Chromosome Mapping Heterozygote Detection Polymerase Chain Reaction Sequence Analysis, DNA Disease Models, Animal Genetic Testing Genetic Therapy Cloning, Molecular Genetic Complementation Test Surgical Flaps Reconstructive Surgical Procedures Gene Targeting Bone Transplantation In Situ Hybridization Models, Biological Guided Tissue Regeneration, Periodontal Septal Occluder Device Crosses, Genetic Prostheses and Implants Tomography, Emission-Computed, Single-Photon Immunohistochemistry Mutagenesis, Insertional Tissue Scaffolds Sequence Alignment Reverse Transcriptase Polymerase Chain Reaction Blotting, Western Echocardiography Guided Tissue Regeneration Amino Acid Substitution X-Ray Microtomography Cardiac Catheterization Microscopy, Fluorescence Treatment Outcome Visual Field Tests Microscopy, Electron Absorbable Implants Tissue Engineering Microscopy, Electron, Scanning Retrospective Studies Follow-Up Studies Transfection Prenatal Diagnosis Mutagenesis, Site-Directed Ultrasonography, Prenatal Prosthesis Implantation Microscopy, Electron, Transmission Gene Knockout Techniques

Psychiatry and Psychology1

Phenomena and Processes79

Mutation Phenotype Heterozygote Homozygote Genetic Linkage Exons Point Mutation Base Sequence Lod Score Consanguinity Genes, Recessive Penetrance Mutation, Missense Genes, Dominant Codon, Nonsense Frameshift Mutation Sequence Deletion Genotype Gene Deletion Alleles Amino Acid Sequence Genetic Predisposition to Disease Genetic Markers Microsatellite Repeats Haplotypes X Chromosome Polymorphism, Genetic Gene Expression Genetic Variation Gene Frequency Gene Expression Regulation, Developmental Bone Regeneration Signal Transduction Pregnancy Morphogenesis Genes, Lethal Time Factors Cell Differentiation Sequence Homology, Amino Acid Body Patterning Mutagenesis Genes, Fungal Wound Healing Temperature Protein Transport Protein Binding Mitosis DNA Repair Protein Structure, Tertiary Embryonic Development Osteogenesis Gene Expression Regulation, Fungal Cell Division Gene Expression Regulation Cell Movement Mutagenesis, Insertional Cell Proliferation Biological Transport Apoptosis Cell Polarity RNA Interference Cell Cycle Genes, Suppressor Visual Fields Amino Acid Substitution Embryonic and Fetal Development Chromosome Segregation Recombination, Genetic Plasmids DNA Damage Transgenes Phosphorylation Meiosis Larva Transfection DNA Replication Osseointegration Cytokinesis Kinetics

Disciplines and Occupations1

Immunohistochemistry

Technology, Industry, Agriculture3

Bone Substitutes Biocompatible Materials Tissue Engineering

Information Science3

Molecular Sequence Data Base Sequence Amino Acid Sequence

Named Groups1

Infant, Newborn

Health Care5

Genetic Testing Temperature Treatment Outcome Retrospective Studies Follow-Up Studies

Anatomy Organisms Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Psychiatry and Psychology Phenomena and Processes Disciplines and Occupations Technology, Industry, Agriculture Information Science Named Groups Health Care

Mutation Pedigree Phenotype Heterozygote Homozygote Porphyrias Genetic Linkage Agammaglobulinemia Hydroxymethylbilane Synthase DNA Mutational Analysis Chromosome Mapping Syndrome Exons Point Mutation Molecular Sequence Data Base Sequence Heterozygote Detection Lod Score Consanguinity Genes, Recessive Mitochondrial Diseases Hypolipoproteinemias Penetrance Mutation, Missense Genes, Dominant Polymerase Chain Reaction Codon, Nonsense Abnormalities, Multiple Frameshift Mutation Sequence Analysis, DNA Sequence Deletion Heart Septal Defects, Ventricular Genotype Gene Deletion Heart Defects, Congenital Hyperlipoproteinemia Type II Alleles Heart Septal Defects, Atrial MutS Homolog 2 Protein Amino Acid Sequence Genetic Predisposition to Disease Mice, Mutant Strains DNA Genetic Markers Retinal Degeneration Disease Models, Animal Genetic Testing Microsatellite Repeats Mice, Knockout Genetic Therapy Haplotypes X Chromosome DNA Primers Nuclear Proteins DNA-Binding Proteins Infant, Newborn Membrane Proteins Heart Septal Defects Mice, Inbred C57BL Carrier Proteins Fibroblasts Polymorphism, Genetic Gene Expression RNA, Messenger Cloning, Molecular Cell Line Cells, Cultured Genetic Variation Gene Frequency Congenital Abnormalities Gene Expression Regulation, Developmental Bone Regeneration Endocardial Cushion Defects Genetic Complementation Test Saccharomyces cerevisiae Saccharomyces cerevisiae Proteins Surgical Flaps Signal Transduction Pregnancy Transcription Factors Zebrafish Furcation Defects Reconstructive Surgical Procedures Mice, Transgenic Morphogenesis Fungal Proteins Genes, Lethal Limb Deformities, Congenital Craniofacial Abnormalities Bone Substitutes Drosophila Proteins Anencephaly Cartilage Diseases Skull Embryo, Mammalian Eye Abnormalities Time Factors Zebrafish Proteins Abnormalities, Drug-Induced Cell Differentiation

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