Syndrome have genetic mutations. Medical search. Frequent questions

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Anatomy8

Cell Line Brain Cells, Cultured Cell Line, Tumor Mitochondria Neurons COS Cells X Chromosome

Organisms9

Mice, Transgenic Mice, Mutant Strains Mice, Inbred C57BL Mice, Knockout Escherichia coli Zebrafish Caenorhabditis elegans Saccharomyces cerevisiae Porcine respiratory and reproductive syndrome virus

Diseases79

Syndrome Down Syndrome Metabolic Syndrome X Genetic Predisposition to Disease Nephrotic Syndrome Fructose-1,6-Diphosphatase Deficiency Sjogren's Syndrome Abnormalities, Multiple Disease Models, Animal Deafness Turner Syndrome Myelodysplastic Syndromes Long QT Syndrome Cell Transformation, Neoplastic Cushing Syndrome Polycystic Ovary Syndrome Acute Coronary Syndrome Neoplasms Williams Syndrome DiGeorge Syndrome Prader-Willi Syndrome Hemolytic-Uremic Syndrome Horner Syndrome Intellectual Disability Guillain-Barre Syndrome Ehlers-Danlos Syndrome Parkinson Disease Brugada Syndrome Tourette Syndrome Compartment Syndromes Antiphospholipid Syndrome Eye Abnormalities Werner Syndrome Breast Neoplasms Disease Progression Porcine Reproductive and Respiratory Syndrome Klinefelter Syndrome Bloom Syndrome Facies Thyroid Neoplasms HELLP Syndrome Carpal Tunnel Syndrome Reye Syndrome Leukemia, Myeloid, Acute Bartter Syndrome Angelman Syndrome Genetic Diseases, X-Linked Craniofacial Abnormalities 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 Alzheimer Disease 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 Wolff-Parkinson-White Syndrome Microcephaly

Chemicals and Drugs33

Codon, Nonsense DNA Primers Mutant Proteins Proto-Oncogene Proteins B-raf DNA-Binding Proteins DNA Transcription Factors Membrane Proteins Nuclear Proteins Factor V Genetic Markers Eye Proteins RNA, Messenger Carrier Proteins DNA, Neoplasm Codon Tumor Suppressor Protein p53 Nerve Tissue Proteins Neoplasm Proteins Prothrombin Tumor Suppressor Proteins Bacterial Proteins DNA, Mitochondrial Recombinant Proteins Proteins Antineoplastic Agents Proto-Oncogene Proteins RNA Splice Sites Recombinant Fusion Proteins Saccharomyces cerevisiae Proteins Mutagens NAV1.5 Voltage-Gated Sodium Channel Repressor Proteins

Analytical, Diagnostic and Therapeutic Techniques and Equipment35

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

Psychiatry and Psychology4

Intellectual Disability Tourette Syndrome Restless Legs Syndrome Alzheimer Disease

Phenomena and Processes89

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

Disciplines and Occupations2

Genetic Counseling Immunohistochemistry

Information Science5

Base Sequence Molecular Sequence Data Amino Acid Sequence Computer Simulation Fatal Outcome

Named Groups3

Infant, Newborn Asian Continental Ancestry Group Jews

Health Care12

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

Geographicals1

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 Geographicals

Syndrome Mutation Point Mutation Mutation, Missense Pedigree Frameshift Mutation DNA Mutational Analysis Heterozygote Germ-Line Mutation Phenotype Exons Base Sequence Genetic Testing Genotype Down Syndrome Molecular Sequence Data Polymerase Chain Reaction Metabolic Syndrome X Alleles Homozygote Sequence Analysis, DNA Amino Acid Substitution Polymorphism, Single-Stranded Conformational Genetic Predisposition to Disease Codon, Nonsense Genes, Recessive Mutation Rate Amino Acid Sequence Nephrotic Syndrome Fructose-1,6-Diphosphatase Deficiency DNA Primers Family Health Sjogren's Syndrome Abnormalities, Multiple Disease Models, Animal Cell Line Genes, p53 Protein Structure, Tertiary Signal Transduction Chromosome Mapping Deafness Genetic Linkage Mutant Proteins Gene Deletion Mutagenesis, Site-Directed Proto-Oncogene Proteins B-raf DNA-Binding Proteins DNA Transcription Factors Membrane Proteins Models, Genetic Turner Syndrome Nuclear Proteins Genetic Variation Mutagenesis Mice, Transgenic Myelodysplastic Syndromes Age of Onset Polymorphism, Genetic Models, Biological Genes, Dominant Genetic Counseling Infant, Newborn DNA Methylation Epigenesis, Genetic Sequence Deletion Long QT Syndrome Mice, Mutant Strains Cell Transformation, Neoplastic Transfection Protein Binding Factor V Gene Frequency Genetic Markers Cushing Syndrome Promoter Regions, Genetic Time Factors Polymorphism, Single Nucleotide Eye Proteins Asian Continental Ancestry Group Risk Factors RNA, Messenger Mice, Inbred C57BL Case-Control Studies Carrier Proteins Brain DNA, Neoplasm Mice, Knockout Transcription, Genetic Consanguinity Polycystic Ovary Syndrome Acute Coronary Syndrome Cells, Cultured Neoplasms Escherichia coli Williams Syndrome Drug Resistance Zebrafish Suppression, Genetic DiGeorge Syndrome

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