Mutations syndromes gene dosage. Medical search. Frequent questions

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Anatomy12

Cell Line X Chromosome Chromosomes, Human, Pair 21 Cells, Cultured Chromosomes, Bacterial Brain Sex Chromosomes Chromosomes, Human, Pair 17 Chromosomes Fibroblasts Kidney COS Cells

Organisms9

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

Diseases65

Syndrome Bloom Syndrome Werner Syndrome Bardet-Biedl Syndrome Abnormalities, Multiple Down Syndrome Kallmann Syndrome Mandibulofacial Dysostosis Peutz-Jeghers Syndrome Smith-Lemli-Opitz Syndrome Dwarfism Chediak-Higashi Syndrome Metabolic Syndrome X Wolfram Syndrome Hermanski-Pudlak Syndrome Nephrotic Syndrome Sjogren's Syndrome Goiter Eye Abnormalities DiGeorge Syndrome Turner Syndrome Trisomy Myelodysplastic Syndromes Genetic Predisposition to Disease Long QT Syndrome Disease Models, Animal Cushing Syndrome Chromosome Deletion Polycystic Ovary Syndrome Aneuploidy Acute Coronary Syndrome Williams Syndrome Charcot-Marie-Tooth Disease Prader-Willi Syndrome Hemolytic-Uremic Syndrome Chromosome Aberrations Horner Syndrome Intellectual Disability Guillain-Barre Syndrome Ehlers-Danlos Syndrome Brugada Syndrome Tourette Syndrome Compartment Syndromes Polyploidy Antiphospholipid Syndrome Porcine Reproductive and Respiratory Syndrome Klinefelter Syndrome Hereditary Sensory and Motor Neuropathy Craniofacial Abnormalities Facies HELLP Syndrome Carpal Tunnel Syndrome Reye Syndrome Bartter Syndrome Angelman Syndrome Genetic Diseases, X-Linked Wiskott-Aldrich Syndrome Usher Syndromes Neoplastic Syndromes, Hereditary Chromosome Disorders Respiratory Distress Syndrome, Adult Monosomy Severe Acute Respiratory Syndrome Acquired Immunodeficiency Syndrome Restless Legs Syndrome

Chemicals and Drugs42

RecQ Helicases DNA Helicases Microtubule Proteins Exodeoxyribonucleases Adenosine Triphosphatases Nuclear Proteins Proteins Group II Chaperonins DNA-Binding Proteins Transcription Factors DNA RNA, Messenger Membrane Proteins Carrier Proteins Dosage Forms Codon, Nonsense DNA Primers DNA Topoisomerases, Type I DNA, Complementary Bacterial Proteins Membrane Transport Proteins Saccharomyces cerevisiae Proteins Repressor Proteins Codon Drosophila Proteins Recombinant Proteins Fungal Proteins Homeodomain Proteins DNA, Neoplasm Mutant Proteins DNA Transposable Elements Nerve Tissue Proteins Genetic Markers DNA, Mitochondrial DNA, Bacterial PAX2 Transcription Factor Trans-Activators Proto-Oncogene Proteins B-raf Paired Box Transcription Factors Protein-Serine-Threonine Kinases Cell Cycle Proteins Survival of Motor Neuron 1 Protein

Analytical, Diagnostic and Therapeutic Techniques and Equipment38

Pedigree Chromosome Mapping DNA Mutational Analysis Polymerase Chain Reaction Sequence Analysis, DNA Cloning, Molecular Amino Acid Substitution Dosage Forms Mutagenesis, Site-Directed Genetic Complementation Test Models, Genetic Genetic Testing Crosses, Genetic Heterozygote Detection Disease Models, Animal In Situ Hybridization, Fluorescence Reverse Transcriptase Polymerase Chain Reaction Models, Molecular Mutagenesis, Insertional In Situ Hybridization Sequence Alignment Restriction Mapping Immunohistochemistry Models, Biological Treatment Outcome Karyotyping Blotting, Southern Transfection Heteroduplex Analysis Oligonucleotide Array Sequence Analysis Facies Blotting, Western Gene Expression Profiling Case-Control Studies Risk Factors Nucleic Acid Hybridization Comparative Genomic Hybridization Nucleic Acid Amplification Techniques

Psychiatry and Psychology3

Intellectual Disability Tourette Syndrome Restless Legs Syndrome

Phenomena and Processes103

Gene Dosage Mutation Mutation, Missense Point Mutation Frameshift Mutation Heterozygote Homozygote Phenotype Base Sequence Dosage Compensation, Genetic Alleles Exons Germ-Line Mutation Genotype Amino Acid Sequence Genes, Recessive Sequence Deletion Consanguinity Genetic Linkage Mutation Rate Gene Deletion Amino Acid Substitution Sequence Homology, Amino Acid Suppression, Genetic Genes, Dominant Gene Expression Regulation Recombination, Genetic X Chromosome Polymorphism, Single-Stranded Conformational Plasmids Mutagenesis Promoter Regions, Genetic Gene Duplication Codon, Nonsense Microsatellite Repeats Genes Transcription, Genetic X Chromosome Inactivation Genes, Fungal Trisomy Haploinsufficiency Genetic Predisposition to Disease Chromosomes, Human, Pair 21 Conserved Sequence Genes, Lethal Genes, Bacterial Polymorphism, Genetic Protein Structure, Tertiary Gene Expression Chromosome Deletion Aneuploidy Protein Binding Gene Amplification Genetic Variation Genes, Regulator Gene Expression Regulation, Developmental Genes, X-Linked Signal Transduction Gene Frequency Time Factors Codon Mutagenesis, Insertional Binding Sites Chromosome Aberrations Introns Founder Effect Genomic Imprinting Genes, p53 Kinetics Evolution, Molecular Chromosomes, Bacterial Diploidy DNA Transposable Elements Polyploidy Temperature Exome Polymorphism, Single Nucleotide Transfection Genetic Markers Gene Expression Regulation, Fungal Sex Chromosomes Chromosomes, Human, Pair 17 Haploidy Operon Chromosomes Dose-Response Relationship, Drug Pregnancy Gene Expression Regulation, Bacterial Nucleic Acid Hybridization Morphogenesis Mosaicism Genes, BRCA1 Ploidies Loss of Heterozygosity Protein Conformation Drug Resistance, Microbial DNA Replication Polymorphism, Restriction Fragment Length Monosomy Multigene Family Structure-Activity Relationship Genetic Heterogeneity Penetrance

Disciplines and Occupations1

Immunohistochemistry

Information Science3

Molecular Sequence Data Base Sequence Amino Acid Sequence

Named Groups3

Infant, Newborn Asian Continental Ancestry Group Jews

Health Care7

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

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

Gene Dosage Syndrome Bloom Syndrome Werner Syndrome Mutation Mutation, Missense Point Mutation RecQ Helicases Frameshift Mutation Pedigree Bardet-Biedl Syndrome Heterozygote Homozygote Abnormalities, Multiple Phenotype Molecular Sequence Data Down Syndrome DNA Helicases Base Sequence Microtubule Proteins Kallmann Syndrome Dosage Compensation, Genetic Alleles Chromosome Mapping DNA Mutational Analysis Mandibulofacial Dysostosis Exons Germ-Line Mutation Genotype Peutz-Jeghers Syndrome Smith-Lemli-Opitz Syndrome Dwarfism Amino Acid Sequence Exodeoxyribonucleases Polymerase Chain Reaction Chediak-Higashi Syndrome Adenosine Triphosphatases Genes, Recessive Metabolic Syndrome X Nuclear Proteins Sequence Deletion Consanguinity Wolfram Syndrome Sequence Analysis, DNA Proteins Group II Chaperonins DNA-Binding Proteins Transcription Factors Hermanski-Pudlak Syndrome Genetic Linkage Mutation Rate Cloning, Molecular DNA Gene Deletion RNA, Messenger Nephrotic Syndrome Amino Acid Substitution Cell Line Membrane Proteins Sequence Homology, Amino Acid Carrier Proteins Sjogren's Syndrome Escherichia coli Suppression, Genetic Genes, Dominant Gene Expression Regulation Recombination, Genetic X Chromosome Saccharomyces cerevisiae Goiter Polymorphism, Single-Stranded Conformational Plasmids Mutagenesis Promoter Regions, Genetic Dosage Forms Eye Abnormalities Gene Duplication DiGeorge Syndrome Codon, Nonsense Microsatellite Repeats Genes DNA Primers Mutagenesis, Site-Directed Mice, Transgenic Transcription, Genetic X Chromosome Inactivation Turner Syndrome Genes, Fungal Genetic Complementation Test Models, Genetic Trisomy Haploinsufficiency Genetic Testing DNA Topoisomerases, Type I Myelodysplastic Syndromes Mice, Mutant Strains Genetic Predisposition to Disease Mice, Inbred C57BL Chromosomes, Human, Pair 21 Conserved Sequence

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