Novel mutations and genotype phenotype. Medical search. Frequent questions

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Anatomy9

Cell Line Cells, Cultured COS Cells Chromosomes, Human, X X Chromosome Fibroblasts Fundus Oculi Cell Line, Tumor Brain

Organisms12

Escherichia coli Saccharomyces cerevisiae Mice, Inbred C57BL Mice, Transgenic Mice, Knockout Mice, Mutant Strains Hepacivirus Drosophila melanogaster Cercopithecus aethiops Cricetinae Drosophila Arabidopsis

Diseases45

Frasier Syndrome Niemann-Pick Diseases Genetic Predisposition to Disease Syndrome Genetic Diseases, X-Linked Eye Abnormalities Corneal Dystrophies, Hereditary Retinitis Pigmentosa Abnormalities, Multiple Hearing Loss, Sensorineural Brain Diseases, Metabolic, Inborn Nystagmus, Congenital Cataract Usher Syndromes Osteochondrodysplasias Eye Diseases, Hereditary Methemoglobinemia Aniridia 46, XY Disorders of Sex Development Intellectual Disability Gonadal Dysgenesis, 46,XY Disease Models, Animal Nephrocalcinosis Genetic Diseases, Inborn Craniofacial Abnormalities Dwarfism Deafness Pigmentation Disorders Mitochondrial Encephalomyopathies Pain Insensitivity, Congenital Hand Deformities, Congenital Albinism, Oculocutaneous Ichthyosis Metabolism, Inborn Errors Charcot-Marie-Tooth Disease Neoplastic Syndromes, Hereditary Breast Neoplasms Mitochondrial Diseases Ectodermal Dysplasia Pseudohypoaldosteronism Long QT Syndrome Diabetes Insipidus, Neurogenic Mental Retardation, X-Linked Hair Diseases Tooth Abnormalities

Chemicals and Drugs52

Codon, Nonsense DNA Primers Codon Eye Proteins Transcription Factors Membrane Proteins DNA DNA-Binding Proteins Genetic Markers RNA, Messenger Carrier Proteins Bacterial Proteins RNA Splice Sites Nuclear Proteins Mutant Proteins DNA, Mitochondrial Proteins Recombinant Proteins Homeodomain Proteins DNA, Bacterial Repressor Proteins DNA, Neoplasm DNA, Complementary Codon, Terminator Connexins Proto-Oncogene Proteins DNA Transposable Elements RNA, Viral Drosophila Proteins Recombinant Fusion Proteins Membrane Transport Proteins NAV1.5 Voltage-Gated Sodium Channel Saccharomyces cerevisiae Proteins Arginine Cytochrome-B(5) Reductase Fungal Proteins Proto-Oncogene Proteins B-raf DNA, Viral Trans-Activators Neoplasm Proteins Sodium Channels Cytoskeletal Proteins Protein-Serine-Threonine Kinases ATP-Binding Cassette Transporters Adaptor Proteins, Signal Transducing Cystic Fibrosis Transmembrane Conductance Regulator Extracellular Matrix Proteins Glutathione Transferase Proline Methylenetetrahydrofolate Reductase (NADPH2)Tumor Suppressor Protein p53 DNA Gyrase

Analytical, Diagnostic and Therapeutic Techniques and Equipment33

DNA Mutational Analysis Pedigree Genetic Association Studies Polymerase Chain Reaction Sequence Analysis, DNA Amino Acid Substitution Genetic Testing Chromosome Mapping Mutagenesis, Site-Directed Models, Genetic Sequence Alignment Genetic Complementation Test Case-Control Studies Models, Molecular Cloning, Molecular Heterozygote Detection Mutagenesis, Insertional Reverse Transcriptase Polymerase Chain Reaction Transfection Crosses, Genetic Cohort Studies Immunohistochemistry Restriction Mapping Blotting, Western Disease Models, Animal Electroretinography Risk Factors Models, Biological Blotting, Southern Gene Expression Profiling Cluster Analysis Microbial Sensitivity Tests Molecular Epidemiology

Psychiatry and Psychology4

Family 46, XY Disorders of Sex Development Intellectual Disability Siblings

Phenomena and Processes96

Phenotype Genotype Mutation Mutation, Missense Point Mutation Codon, Nonsense Exons Alleles Polymorphism, Genetic Base Sequence Homozygote Frameshift Mutation Genetic Predisposition to Disease Genetic Variation Amino Acid Sequence Sequence Deletion Heterozygote Germ-Line Mutation Polymorphism, Single-Stranded Conformational Amino Acid Substitution Genes, Dominant Genes, Recessive Polymorphism, Single Nucleotide Gene Frequency Consanguinity Genetic Linkage Mutation Rate Gene Deletion Polymorphism, Restriction Fragment Length Mutagenesis Codon Haplotypes Protein Structure, Tertiary Sequence Homology, Amino Acid Introns Founder Effect Phylogeny Exome Microsatellite Repeats Genetic Markers Mutagenesis, Insertional Genetic Heterogeneity Suppression, Genetic RNA Splice Sites Promoter Regions, Genetic Transfection Binding Sites Signal Transduction Protein Binding Penetrance Plasmids Gene Expression Transcription, Genetic Genes, Bacterial Genes, Lethal Recombination, Genetic Gene Expression Regulation RNA Splicing Genes, p53 Chromosomes, Human, X Selection, Genetic X Chromosome Genes Drug Resistance, Viral Codon, Terminator Conserved Sequence Temperature Genes, BRCA1 Time Factors Evolution, Molecular DNA Transposable Elements Mosaicism Structure-Activity Relationship Inheritance Patterns Protein Conformation Kinetics Drug Resistance Species Specificity Cell Differentiation Genes, Fungal Genes, Suppressor Haploinsufficiency Epistasis, Genetic Gene Dosage Gene Expression Regulation, Developmental Lod Score Alternative Splicing Protein Structure, Secondary Drug Resistance, Microbial Linkage Disequilibrium INDEL Mutation Drug Resistance, Bacterial Virulence DNA Repair Gene Expression Regulation, Bacterial Genome, Human

Disciplines and Occupations3

Immunohistochemistry Molecular Epidemiology Genetics, Population

Anthropology, Education, Sociology and Social Phenomena2

Family Siblings

Information Science4

Molecular Sequence Data Base Sequence Amino Acid Sequence Phylogeny

Named Groups4

Asian Continental Ancestry Group Jews Infant, Newborn Siblings

Health Care9

Age of Onset Genetic Testing Family Health Case-Control Studies Cohort Studies Temperature Risk Factors Cluster Analysis Molecular Epidemiology

Geographicals8

China Japan Italy India Pakistan Turkey Korea Tunisia

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 Geographicals

Phenotype Genotype Mutation Mutation, Missense Point Mutation DNA Mutational Analysis Pedigree Frasier Syndrome Codon, Nonsense Exons Molecular Sequence Data Alleles Polymorphism, Genetic Base Sequence Homozygote Frameshift Mutation Age of Onset Genetic Association Studies Polymerase Chain Reaction Niemann-Pick Diseases Genetic Predisposition to Disease Genetic Variation Amino Acid Sequence Sequence Deletion Heterozygote Germ-Line Mutation Sequence Analysis, DNA Polymorphism, Single-Stranded Conformational Amino Acid Substitution Genes, Dominant Genes, Recessive Polymorphism, Single Nucleotide Genetic Testing Gene Frequency Asian Continental Ancestry Group Consanguinity DNA Primers Syndrome Genetic Linkage Genetic Diseases, X-Linked Mutation Rate Gene Deletion Family Health Chromosome Mapping Polymorphism, Restriction Fragment Length Mutagenesis, Site-Directed Mutagenesis Codon Eye Proteins Haplotypes Protein Structure, Tertiary Sequence Homology, Amino Acid Cell Line Transcription Factors Eye Abnormalities Models, Genetic Introns Sequence Alignment Membrane Proteins China DNA DNA-Binding Proteins Corneal Dystrophies, Hereditary Genetic Complementation Test Founder Effect Case-Control Studies Retinitis Pigmentosa Family Models, Molecular Phylogeny Exome Escherichia coli Microsatellite Repeats Cloning, Molecular Heterozygote Detection Genetic Markers RNA, Messenger Mutagenesis, Insertional Genetic Heterogeneity Suppression, Genetic Carrier Proteins Bacterial Proteins Reverse Transcriptase Polymerase Chain Reaction RNA Splice Sites Promoter Regions, Genetic Abnormalities, Multiple Transfection Binding Sites Nuclear Proteins Mutant Proteins Crosses, Genetic Signal Transduction Saccharomyces cerevisiae Protein Binding Penetrance Hearing Loss, Sensorineural Jews DNA, Mitochondrial Cells, Cultured Brain Diseases, Metabolic, Inborn

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