Abnormalities when patients and mutation. Medical search. Frequent questions

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Anatomy16

Cell Line Brain Cells, Cultured COS Cells X Chromosome Fibroblasts Chromosomes, Human, Pair 17 Cell Line, Tumor HeLa Cells Cell Nucleus HEK293 Cells Chromosomes, Human, X Chromosomes, Human, Pair 11 Mitochondria Tumor Cells, Cultured Kidney

Organisms13

Escherichia coli Saccharomyces cerevisiae Mice, Mutant Strains Mice, Transgenic Mice, Inbred C57BL Mice, Knockout Drosophila melanogaster Cricetinae Cercopithecus aethiops Drosophila HIV-1 Zebrafish Animals, Genetically Modified

Diseases39

Abnormalities, Multiple Syndrome Chromosome Aberrations Eye Abnormalities Genetic Predisposition to Disease Congenital Abnormalities Chromosome Disorders Craniofacial Abnormalities Disease Models, Animal Chromosome Deletion Skin Abnormalities Genetic Diseases, X-Linked Urogenital Abnormalities Retinitis Pigmentosa Tooth Abnormalities Intellectual Disability Cardiovascular Abnormalities Musculoskeletal Abnormalities Limb Deformities, Congenital Osteochondrodysplasias Trisomy Translocation, Genetic Mitochondrial Diseases Deafness Genetic Diseases, Inborn Hearing Loss, Sensorineural Cell Transformation, Neoplastic Aneuploidy Nervous System Malformations Breast Neoplasms Lung Neoplasms Disease Progression Colorectal Neoplasms Sex Chromosome Aberrations Bone Diseases, Developmental Heart Defects, Congenital Microcephaly Leukemia, Myeloid, Acute Cardiomyopathy, Hypertrophic

Chemicals and Drugs56

Codon, Nonsense DNA Primers DNA-Binding Proteins Codon Transcription Factors DNA Membrane Proteins Mutant Proteins Nuclear Proteins RNA, Messenger Bacterial Proteins DNA, Neoplasm DNA, Mitochondrial Carrier Proteins Proto-Oncogene Proteins B-raf Recombinant Proteins Proteins Eye Proteins Proto-Oncogene Proteins Mutagens Ethylnitrosourea Tumor Suppressor Protein p53 Repressor Proteins Saccharomyces cerevisiae Proteins RNA Splice Sites Recombinant Fusion Proteins Genetic Markers DNA, Complementary BRCA2 Protein Drosophila Proteins ras Proteins Fungal Proteins Homeodomain Proteins Nerve Tissue Proteins Trans-Activators Escherichia coli Proteins Neoplasm Proteins DNA, Bacterial DNA Transposable Elements Tumor Suppressor Proteins Protein-Serine-Threonine Kinases Arginine Codon, Terminator Adenosine Triphosphatases Ethyl Methanesulfonate Cytoskeletal Proteins Adaptor Proteins, Signal Transducing Alanine Cell Cycle Proteins Glycine Aspartic Acid Membrane Transport Proteins BRCA1 Protein Serine Cysteine Sodium Channels

Analytical, Diagnostic and Therapeutic Techniques and Equipment38

Pedigree Amino Acid Substitution Polymerase Chain Reaction DNA Mutational Analysis Mutagenesis, Site-Directed Sequence Analysis, DNA Genetic Testing Chromosome Mapping Models, Molecular Genetic Complementation Test Cloning, Molecular Sequence Alignment Karyotyping Models, Genetic Transfection Heterozygote Detection Magnetic Resonance Imaging Mutagenesis, Insertional Disease Models, Animal Crosses, Genetic Case-Control Studies Reverse Transcriptase Polymerase Chain Reaction Immunohistochemistry In Situ Hybridization, Fluorescence Restriction Mapping Prognosis Blotting, Western Models, Biological Cohort Studies Sensitivity and Specificity Genetic Association Studies Retrospective Studies Blotting, Southern Electroretinography Gene Targeting Risk Factors Electrocardiography Cytogenetic Analysis

Psychiatry and Psychology2

Intellectual Disability Family

Phenomena and Processes104

Point Mutation Mutation, Missense Mutation Frameshift Mutation Germ-Line Mutation Mutation Rate Heterozygote Base Sequence Exons Amino Acid Substitution Alleles Polymorphism, Single-Stranded Conformational Homozygote Genotype Amino Acid Sequence Phenotype Codon, Nonsense Mutagenesis Genes, Recessive Genes, Dominant Sequence Deletion Chromosome Aberrations Protein Structure, Tertiary Gene Deletion Suppression, Genetic Codon Sequence Homology, Amino Acid Binding Sites Genes, p53 Genetic Linkage Genetic Predisposition to Disease Consanguinity Founder Effect Protein Binding Genes, Lethal Plasmids Transfection Polymorphism, Genetic Transcription, Genetic Exome Mutagenesis, Insertional Signal Transduction Promoter Regions, Genetic Genes, BRCA1 Genetic Variation Gene Frequency Introns Microsatellite Repeats Chromosome Deletion Protein Conformation Recombination, Genetic Genes, Bacterial Time Factors Genes Kinetics Mosaicism Structure-Activity Relationship Drug Resistance, Viral Gene Expression Genes, Suppressor Polymorphism, Restriction Fragment Length Penetrance Conserved Sequence Gene Expression Regulation Pregnancy Temperature RNA Splicing INDEL Mutation RNA Splice Sites Polymorphism, Single Nucleotide Genes, BRCA2 X Chromosome Genes, Fungal Genetic Markers DNA Repair Selection, Genetic Evolution, Molecular Loss of Heterozygosity Protein Structure, Secondary Genetic Heterogeneity Phosphorylation Sensitivity and Specificity Gene Expression Regulation, Developmental DNA Transposable Elements Trisomy Translocation, Genetic Gene Dosage Drug Resistance, Microbial Amino Acid Motifs Chromosomes, Human, Pair 17 Codon, Terminator Drug Resistance Protein Transport Aneuploidy Gene Expression Regulation, Bacterial Virus Replication Chromosomes, Human, X Chromosomes, Human, Pair 11 Genes, APC Sex Chromosome Aberrations Ultraviolet Rays Phylogeny Gene Rearrangement Alternative Splicing

Disciplines and Occupations1

Immunohistochemistry

Anthropology, Education, Sociology and Social Phenomena1

Information Science4

Base Sequence Molecular Sequence Data Amino Acid Sequence Phylogeny

Named Groups3

Infant, Newborn Jews Asian Continental Ancestry Group

Health Care10

Genetic Testing Family Health Age of Onset Case-Control Studies Temperature Cohort Studies Sensitivity and Specificity Retrospective Studies Risk Factors Ultraviolet Rays

Anatomy Organisms Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Psychiatry and Psychology Phenomena and Processes Disciplines and Occupations Anthropology, Education, Sociology and Social Phenomena Information Science Named Groups Health Care

Point Mutation Mutation, Missense Mutation Frameshift Mutation Germ-Line Mutation Pedigree Mutation Rate Heterozygote Base Sequence Exons Amino Acid Substitution Polymerase Chain Reaction DNA Mutational Analysis Molecular Sequence Data Abnormalities, Multiple Alleles Polymorphism, Single-Stranded Conformational Homozygote Genotype Amino Acid Sequence Mutagenesis, Site-Directed Phenotype Codon, Nonsense Mutagenesis Sequence Analysis, DNA Genes, Recessive Syndrome Genes, Dominant Sequence Deletion Genetic Testing Chromosome Aberrations Eye Abnormalities DNA Primers Chromosome Mapping Protein Structure, Tertiary Gene Deletion Escherichia coli Suppression, Genetic DNA-Binding Proteins Cell Line Models, Molecular Codon Transcription Factors Sequence Homology, Amino Acid Binding Sites Genes, p53 Genetic Complementation Test DNA Genetic Linkage Membrane Proteins Genetic Predisposition to Disease Consanguinity Cloning, Molecular Founder Effect Protein Binding Mutant Proteins Sequence Alignment Karyotyping Congenital Abnormalities Genes, Lethal Chromosome Disorders Nuclear Proteins Models, Genetic Saccharomyces cerevisiae RNA, Messenger Plasmids Transfection Bacterial Proteins Heterozygote Detection Polymorphism, Genetic Craniofacial Abnormalities Mice, Mutant Strains DNA, Neoplasm Family Health DNA, Mitochondrial Carrier Proteins Magnetic Resonance Imaging Transcription, Genetic Exome Mutagenesis, Insertional Brain Signal Transduction Proto-Oncogene Proteins B-raf Promoter Regions, Genetic Genes, BRCA1 Genetic Variation Mice, Transgenic Gene Frequency Age of Onset Introns Disease Models, Animal Microsatellite Repeats Chromosome Deletion Infant, Newborn Crosses, Genetic Protein Conformation Recombinant Proteins Recombination, Genetic Skin Abnormalities Genes, Bacterial

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