Molecular defect. Medical search. Frequent questions

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Anatomy26

Fibroblasts Erythrocytes, Abnormal X Chromosome Erythrocyte Membrane Cells, Cultured Cell Line COS Cells Skin Liver 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

Organisms12

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

Diseases54

Elliptocytosis, Hereditary Porphyria, Hepatoerythropoietic Spherocytosis, Hereditary Syndrome Antithrombin III Deficiency Corneal Opacity Blood Coagulation Disorders Lecithin Acyltransferase Deficiency Factor X Deficiency Thalassemia Anemia, Hemolytic Pyruvate Dehydrogenase Complex Deficiency Disease Heart Septal Defects, Ventricular Heart Defects, Congenital alpha-Thalassemia Mitochondrial Diseases Immunologic Deficiency Syndromes Heart Septal Defects, Atrial Hemophilia A Severe Combined Immunodeficiency Granulomatous Disease, Chronic Chromosome Deletion beta-Thalassemia von Willebrand Diseases Disease Models, Animal Heart Septal Defects Congenital Abnormalities Genetic Predisposition to Disease Abnormalities, Multiple 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 Cleft Lip Dental Enamel Hypoplasia Encephalocele Aortopulmonary Septal Defect Nervous System Malformations Fetal Diseases Hemianopsia Embryo Loss Vision Disorders Skin Abnormalities Fetal Death

Chemicals and Drugs46

Spectrin Ferrochelatase Fibrinogens, Abnormal DNA Membrane Proteins RNA, Messenger Codon, Nonsense Factor VIII Codon Glycine Carrier Proteins DNA-Binding Proteins DNA Primers DNA, Complementary Proline Cyanogen Bromide Arginine Transcription Factors Oligonucleotide Probes Nuclear Proteins Trypsin Globins Macromolecular Substances Cysteine Alanine DNA, Mitochondrial Proteins Genetic Markers RNA Peptide Fragments Saccharomyces cerevisiae Proteins Fungal Proteins Bone Substitutes Drosophila Proteins Zebrafish Proteins Homeodomain Proteins Caenorhabditis elegans Proteins Protein-Serine-Threonine Kinases Nerve Tissue Proteins Repressor Proteins Recombinant Fusion Proteins Biocompatible Materials Folic Acid Thallium Radioisotopes Green Fluorescent Proteins Arabidopsis Proteins

Analytical, Diagnostic and Therapeutic Techniques and Equipment43

Pedigree DNA Mutational Analysis Polymerase Chain Reaction Blotting, Southern Genetic Complementation Test Heterozygote Detection Chromosome Mapping Sequence Analysis, DNA Isoelectric Focusing Cloning, Molecular Disease Models, Animal Electrophoresis, Polyacrylamide Gel Restriction Mapping Amino Acid Substitution Mutagenesis, Site-Directed Transfection Blotting, Western Reference Values Blotting, Northern Immunohistochemistry 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 Mutagenesis, Insertional Tissue Scaffolds Sequence Alignment Reverse Transcriptase Polymerase Chain Reaction Echocardiography Guided Tissue Regeneration X-Ray Microtomography Cardiac Catheterization Microscopy, Fluorescence Treatment Outcome Visual Field Tests Microscopy, Electron

Psychiatry and Psychology1

Phenomena and Processes78

Mutation Base Sequence Exons Point Mutation Phenotype Amino Acid Sequence Mutation, Missense Frameshift Mutation Heterozygote Alleles Homozygote Consanguinity Polymorphism, Single-Stranded Conformational Genetic Linkage Gene Deletion Genes, Dominant X Chromosome Introns Genes, Recessive Chromosome Deletion Genes Genotype Polymorphism, Restriction Fragment Length Codon, Nonsense Codon RNA Splicing Sequence Deletion Gene Rearrangement Polymorphism, Genetic Gene Expression Signal Transduction Amino Acid Substitution Haplotypes Protein Binding Genetic Variation Sequence Homology, Amino Acid Gene Expression Regulation Transfection Pregnancy Protein Structure, Tertiary Genetic Markers Microsatellite Repeats Genetic Predisposition to Disease Protein Conformation Apoptosis Molecular Weight Gene Expression Regulation, Developmental Bone Regeneration Morphogenesis Genes, Lethal Time Factors Cell Differentiation Body Patterning Mutagenesis Genes, Fungal Wound Healing Temperature Protein Transport Mitosis DNA Repair Embryonic Development Osteogenesis Gene Expression Regulation, Fungal Cell Division Cell Movement Mutagenesis, Insertional Cell Proliferation Biological Transport Cell Polarity RNA Interference Cell Cycle Genes, Suppressor Visual Fields Embryonic and Fetal Development Chromosome Segregation Recombination, Genetic Plasmids DNA Damage

Disciplines and Occupations1

Immunohistochemistry

Technology, Industry, Agriculture2

Bone Substitutes Biocompatible Materials

Information Science3

Molecular Sequence Data Base Sequence Amino Acid Sequence

Named Groups1

Infant, Newborn

Health Care3

Family Health Temperature Treatment Outcome

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

Mutation Elliptocytosis, Hereditary Pedigree Molecular Sequence Data Base Sequence Spectrin Exons DNA Mutational Analysis Point Mutation Phenotype Amino Acid Sequence Porphyria, Hepatoerythropoietic Mutation, Missense Frameshift Mutation Heterozygote Spherocytosis, Hereditary Ferrochelatase Polymerase Chain Reaction Alleles Syndrome Antithrombin III Deficiency Fibrinogens, Abnormal Corneal Opacity Blood Coagulation Disorders Homozygote Lecithin Acyltransferase Deficiency Factor X Deficiency Thalassemia Consanguinity Anemia, Hemolytic Polymorphism, Single-Stranded Conformational Pyruvate Dehydrogenase Complex Deficiency Disease Heart Septal Defects, Ventricular Fibroblasts Heart Defects, Congenital alpha-Thalassemia Genetic Linkage DNA Mitochondrial Diseases Erythrocytes, Abnormal Gene Deletion Immunologic Deficiency Syndromes Heart Septal Defects, Atrial Genes, Dominant Hemophilia A X Chromosome Erythrocyte Membrane Membrane Proteins Severe Combined Immunodeficiency Introns Genes, Recessive RNA, Messenger Granulomatous Disease, Chronic Chromosome Deletion beta-Thalassemia Blotting, Southern Genes Genetic Complementation Test Genotype Polymorphism, Restriction Fragment Length Codon, Nonsense Factor VIII Codon RNA Splicing Heterozygote Detection Sequence Deletion Mice, Mutant Strains von Willebrand Diseases Cells, Cultured Chromosome Mapping Sequence Analysis, DNA Infant, Newborn Cell Line Gene Rearrangement Glycine Isoelectric Focusing Carrier Proteins Cloning, Molecular Disease Models, Animal Heart Septal Defects COS Cells Electrophoresis, Polyacrylamide Gel DNA-Binding Proteins Restriction Mapping Polymorphism, Genetic DNA Primers DNA, Complementary Gene Expression Signal Transduction Mice, Knockout Proline Cyanogen Bromide Arginine Amino Acid Substitution Family Health Mutagenesis, Site-Directed Transcription Factors Haplotypes Protein Binding Genetic Variation

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