Mutations include syndromes. Medical search. Frequent questions

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Anatomy6

Cell Line Cells, Cultured COS Cells X Chromosome Fibroblasts Brain

Organisms10

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

Diseases90

Syndrome Down Syndrome Metabolic Syndrome X Nephrotic Syndrome Sjogren's Syndrome Abnormalities, Multiple Turner Syndrome Myelodysplastic Syndromes Long QT Syndrome Cushing Syndrome Polycystic Ovary Syndrome Acute Coronary Syndrome Williams Syndrome Genetic Predisposition to Disease DiGeorge Syndrome Prader-Willi Syndrome Hemolytic-Uremic Syndrome Horner Syndrome Intellectual Disability Guillain-Barre Syndrome Ehlers-Danlos Syndrome Brugada Syndrome Tourette Syndrome Compartment Syndromes Antiphospholipid Syndrome Eye Abnormalities Werner Syndrome Porcine Reproductive and Respiratory Syndrome Klinefelter Syndrome Bloom Syndrome Facies HELLP Syndrome Carpal Tunnel Syndrome Reye Syndrome Bartter Syndrome Angelman Syndrome Genetic Diseases, X-Linked Craniofacial Abnormalities Disease Models, Animal Kallmann Syndrome Wiskott-Aldrich Syndrome Usher Syndromes Neoplastic Syndromes, Hereditary Chromosome Deletion Respiratory Distress Syndrome, Adult Severe Acute Respiratory Syndrome Peutz-Jeghers Syndrome Restless Legs Syndrome Acquired Immunodeficiency Syndrome Job Syndrome Retinitis Pigmentosa Paraneoplastic Syndromes Sweet Syndrome Li-Fraumeni Syndrome Ectodermal Dysplasia Hearing Loss, Sensorineural Alagille Syndrome Budd-Chiari Syndrome Immunologic Deficiency Syndromes Bardet-Biedl Syndrome Hamartoma Syndrome, Multiple Sturge-Weber Syndrome Chediak-Higashi Syndrome Hand Deformities, Congenital Myasthenic Syndromes, Congenital Churg-Strauss Syndrome Beckwith-Wiedemann Syndrome Deafness Wolff-Parkinson-White Syndrome Microcephaly Limb Deformities, Congenital Sick Sinus Syndrome Osteochondrodysplasias Oculocerebrorenal Syndrome Cockayne Syndrome Smith-Lemli-Opitz Syndrome Dwarfism Sezary Syndrome Craniosynostoses Stevens-Johnson Syndrome Felty Syndrome Colorectal Neoplasms, Hereditary Nonpolyposis LEOPARD Syndrome Waardenburg Syndrome Genetic Diseases, Inborn Orofaciodigital Syndromes Gitelman Syndrome Ataxia MELAS Syndrome Duane Retraction Syndrome

Chemicals and Drugs38

Codon, Nonsense DNA Primers DNA-Binding Proteins Codon Transcription Factors DNA Membrane Proteins Nuclear Proteins Mutant Proteins Bacterial Proteins RNA, Messenger Carrier Proteins DNA, Mitochondrial Proto-Oncogene Proteins B-raf Recombinant Proteins Proteins DNA, Neoplasm Genetic Markers Proto-Oncogene Proteins RNA Splice Sites Eye Proteins Recombinant Fusion Proteins Saccharomyces cerevisiae Proteins Mutagens NAV1.5 Voltage-Gated Sodium Channel Repressor Proteins Ethylnitrosourea DNA, Complementary Tumor Suppressor Protein p53 Wiskott-Aldrich Syndrome Protein ras Proteins Drosophila Proteins Fungal Proteins BRCA2 Protein Escherichia coli Proteins Nerve Tissue Proteins DNA, Bacterial Trans-Activators

Analytical, Diagnostic and Therapeutic Techniques and Equipment33

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

Psychiatry and Psychology4

Intellectual Disability Tourette Syndrome Restless Legs Syndrome Family

Phenomena and Processes79

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

Disciplines and Occupations1

Immunohistochemistry

Anthropology, Education, Sociology and Social Phenomena1

Information Science5

Base Sequence Molecular Sequence Data Amino Acid Sequence Fatal Outcome Prevalence

Named Groups3

Infant, Newborn Jews Asian Continental Ancestry Group

Health Care11

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

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

Syndrome Point Mutation Mutation, Missense Mutation Frameshift Mutation Germ-Line Mutation Pedigree Down Syndrome Metabolic Syndrome X Mutation Rate Base Sequence Heterozygote Exons DNA Mutational Analysis Nephrotic Syndrome Molecular Sequence Data Amino Acid Substitution Polymerase Chain Reaction Alleles Sjogren's Syndrome Abnormalities, Multiple Genotype Polymorphism, Single-Stranded Conformational Amino Acid Sequence Homozygote Phenotype Codon, Nonsense Genes, Recessive Mutagenesis, Site-Directed Sequence Analysis, DNA Turner Syndrome Mutagenesis Genetic Testing Myelodysplastic Syndromes Genes, Dominant Sequence Deletion Long QT Syndrome Chromosome Mapping Cushing Syndrome DNA Primers Protein Structure, Tertiary Cell Line Consanguinity Polycystic Ovary Syndrome Acute Coronary Syndrome Gene Deletion Escherichia coli DNA-Binding Proteins Williams Syndrome Genetic Linkage Suppression, Genetic Genetic Predisposition to Disease DiGeorge Syndrome Sequence Homology, Amino Acid Codon Transcription Factors Models, Molecular Binding Sites Prader-Willi Syndrome Hemolytic-Uremic Syndrome Horner Syndrome DNA Genetic Complementation Test Founder Effect Membrane Proteins Protein Binding Cloning, Molecular Intellectual Disability Sequence Alignment Guillain-Barre Syndrome Genes, p53 Ehlers-Danlos Syndrome Family Health Nuclear Proteins Brugada Syndrome Tourette Syndrome Mutant Proteins Compartment Syndromes Polymorphism, Genetic Heterozygote Detection Antiphospholipid Syndrome Eye Abnormalities Werner Syndrome Exome Models, Genetic Porcine Reproductive and Respiratory Syndrome Klinefelter Syndrome Saccharomyces cerevisiae Transfection Bloom Syndrome Plasmids Bacterial Proteins RNA, Messenger Carrier Proteins Facies Gene Frequency Infant, Newborn HELLP Syndrome Carpal Tunnel Syndrome Reye Syndrome

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