Syndrome mutation missense. Medical search. Frequent questions

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Anatomy8

Cell Line COS Cells X Chromosome Cells, Cultured Fibroblasts HEK293 Cells Chromosomes, Human, X Brain

Organisms8

Escherichia coli Saccharomyces cerevisiae Mice, Mutant Strains Porcine respiratory and reproductive syndrome virus Cercopithecus aethiops Mice, Transgenic Mice, Inbred C57BL Cricetinae

Diseases84

Syndrome Andersen Syndrome Long QT Syndrome Craniosynostoses Barth Syndrome LEOPARD Syndrome Noonan Syndrome Colorectal Neoplasms, Hereditary Nonpolyposis Down Syndrome Metabolic Syndrome X Abnormalities, Multiple Nephrotic Syndrome Sjogren's Syndrome Genetic Predisposition to Disease Turner Syndrome Myelodysplastic Syndromes Cushing Syndrome Eye Abnormalities Intellectual Disability Polycystic Ovary Syndrome Acute Coronary Syndrome Genetic Diseases, X-Linked Williams Syndrome DiGeorge Syndrome Facies Prader-Willi Syndrome Hemolytic-Uremic Syndrome Horner Syndrome Craniofacial Abnormalities Brugada Syndrome Retinitis Pigmentosa Guillain-Barre Syndrome Neoplastic Syndromes, Hereditary Ehlers-Danlos Syndrome Tourette Syndrome Compartment Syndromes Antiphospholipid Syndrome Werner Syndrome Kallmann Syndrome Hearing Loss, Sensorineural Ectodermal Dysplasia Disease Models, Animal Porcine Reproductive and Respiratory Syndrome Klinefelter Syndrome Usher Syndromes Bloom Syndrome Wiskott-Aldrich Syndrome HELLP Syndrome Carpal Tunnel Syndrome Reye Syndrome Chromosome Deletion Deafness Bartter Syndrome Angelman Syndrome Li-Fraumeni Syndrome Osteochondrodysplasias Alagille Syndrome Myasthenic Syndromes, Congenital Peutz-Jeghers Syndrome Hand Deformities, Congenital Respiratory Distress Syndrome, Adult Mental Retardation, X-Linked Hamartoma Syndrome, Multiple Microcephaly Limb Deformities, Congenital Immunologic Deficiency Syndromes Severe Acute Respiratory Syndrome Bardet-Biedl Syndrome Restless Legs Syndrome Acquired Immunodeficiency Syndrome Job Syndrome Paraneoplastic Syndromes Sweet Syndrome Dwarfism Genetic Diseases, Inborn Oculocerebrorenal Syndrome Skin Abnormalities Wolfram Syndrome Ataxia Cerebellar Ataxia Coloboma Budd-Chiari Syndrome Sturge-Weber Syndrome Chediak-Higashi Syndrome

Chemicals and Drugs48

NAV1.5 Voltage-Gated Sodium Channel Methyl-CpG-Binding Protein 2 Sodium Channels Receptor, Fibroblast Growth Factor, Type 2 Codon, Nonsense DNA Primers DNA-Binding Proteins Codon Mutant Proteins Transcription Factors DNA Membrane Proteins Nuclear Proteins Carrier Proteins RNA, Messenger Proteins Bacterial Proteins Recombinant Proteins Eye Proteins DNA, Neoplasm DNA, Mitochondrial RNA Splice Sites Proto-Oncogene Proteins B-raf Ethylnitrosourea DNA, Complementary Genetic Markers Proto-Oncogene Proteins Tumor Suppressor Protein p53 Recombinant Fusion Proteins Repressor Proteins Tumor Suppressor Proteins Saccharomyces cerevisiae Proteins Nerve Tissue Proteins Homeodomain Proteins MutS Homolog 2 Protein Mutagens BRCA2 Protein Codon, Terminator Adaptor Proteins, Signal Transducing Fungal Proteins Drosophila Proteins Glycine Arginine BRCA1 Protein Protein-Serine-Threonine Kinases Trans-Activators Wiskott-Aldrich Syndrome Protein Adenosine Triphosphatases

Analytical, Diagnostic and Therapeutic Techniques and Equipment30

Amino Acid Substitution Pedigree DNA Mutational Analysis Polymerase Chain Reaction Sequence Analysis, DNA Mutagenesis, Site-Directed Genetic Testing Chromosome Mapping Models, Molecular Sequence Alignment Genetic Complementation Test Cloning, Molecular Heterozygote Detection Transfection Facies Models, Genetic Case-Control Studies Genetic Association Studies Disease Models, Animal Mutagenesis, Insertional Reverse Transcriptase Polymerase Chain Reaction Risk Factors Cohort Studies Immunohistochemistry Crosses, Genetic Blotting, Western Fatal Outcome Restriction Mapping Treatment Outcome Models, Biological

Psychiatry and Psychology4

Intellectual Disability Tourette Syndrome Family Restless Legs Syndrome

Phenomena and Processes80

Mutation, Missense Mutation Point Mutation Amino Acid Substitution Amino Acid Sequence Frameshift Mutation Phenotype Protein Structure, Tertiary Germ-Line Mutation Exons Base Sequence Heterozygote Polymorphism, Single-Stranded Conformational Alleles Codon, Nonsense Homozygote Mutation Rate Genotype Genes, Recessive Genes, Dominant Consanguinity Sequence Deletion Mutagenesis Genetic Linkage Genetic Predisposition to Disease Sequence Homology, Amino Acid Codon Suppression, Genetic Gene Deletion Binding Sites Polymorphism, Genetic Genes, p53 Protein Binding Founder Effect Genetic Variation Transfection Gene Frequency Introns Polymorphism, Single Nucleotide Microsatellite Repeats Plasmids Transcription, Genetic Genes, BRCA1 Protein Conformation Genetic Heterogeneity Signal Transduction Exome Conserved Sequence Genes, Lethal RNA Splice Sites Mutagenesis, Insertional Penetrance RNA Splicing Promoter Regions, Genetic X Chromosome Chromosome Deletion Structure-Activity Relationship Mosaicism Polymorphism, Restriction Fragment Length Time Factors Gene Expression Genes Recombination, Genetic Genes, Bacterial Genetic Markers Kinetics Genes, Suppressor Protein Structure, Secondary Gene Expression Regulation Temperature Genes, BRCA2 DNA Repair Protein Transport Evolution, Molecular INDEL Mutation Loss of Heterozygosity Codon, Terminator Chromosomes, Human, X Drug Resistance, Viral Genes, Fungal

Disciplines and Occupations1

Immunohistochemistry

Anthropology, Education, Sociology and Social Phenomena1

Information Science4

Molecular Sequence Data Amino Acid Sequence Base Sequence Fatal Outcome

Named Groups3

Infant, Newborn Asian Continental Ancestry Group Jews

Health Care9

Genetic Testing Family Health Age of Onset Case-Control Studies Risk Factors Cohort Studies Temperature Fatal Outcome Treatment Outcome

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

Mutation, Missense Syndrome Mutation Point Mutation Andersen Syndrome Long QT Syndrome Craniosynostoses Barth Syndrome LEOPARD Syndrome NAV1.5 Voltage-Gated Sodium Channel Noonan Syndrome Methyl-CpG-Binding Protein 2 Amino Acid Substitution Sodium Channels Molecular Sequence Data Amino Acid Sequence Frameshift Mutation Receptor, Fibroblast Growth Factor, Type 2 Colorectal Neoplasms, Hereditary Nonpolyposis Pedigree Phenotype Protein Structure, Tertiary Germ-Line Mutation DNA Mutational Analysis Exons Cell Line Base Sequence Down Syndrome Heterozygote Metabolic Syndrome X Polymorphism, Single-Stranded Conformational Alleles Polymerase Chain Reaction Codon, Nonsense Homozygote Mutation Rate Genotype Abnormalities, Multiple Genes, Recessive Nephrotic Syndrome Sequence Analysis, DNA Genes, Dominant Mutagenesis, Site-Directed Sjogren's Syndrome Genetic Testing Consanguinity Sequence Deletion Mutagenesis Chromosome Mapping DNA Primers Genetic Linkage Genetic Predisposition to Disease Sequence Homology, Amino Acid Turner Syndrome Myelodysplastic Syndromes DNA-Binding Proteins Codon Suppression, Genetic Models, Molecular Gene Deletion Sequence Alignment Family Health Escherichia coli Mutant Proteins Transcription Factors DNA Cushing Syndrome Membrane Proteins Binding Sites Eye Abnormalities Polymorphism, Genetic Genes, p53 Genetic Complementation Test Protein Binding Intellectual Disability Founder Effect Cloning, Molecular Polycystic Ovary Syndrome Acute Coronary Syndrome Genetic Diseases, X-Linked Nuclear Proteins Heterozygote Detection Williams Syndrome Genetic Variation Transfection Gene Frequency Carrier Proteins DiGeorge Syndrome Age of Onset Facies Introns Prader-Willi Syndrome Models, Genetic Hemolytic-Uremic Syndrome Horner Syndrome RNA, Messenger Craniofacial Abnormalities Saccharomyces cerevisiae Brugada Syndrome Polymorphism, Single Nucleotide

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