Variation syndromes gene dosage. Medical search. Frequent questions

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Anatomy13

X Chromosome Chromosomes, Human, Pair 21 Cell Line Cells, Cultured Sex Chromosomes Brain Chromosomes Chromosomes, Bacterial Chromosomes, Human, Pair 17 Chromosomes, Mammalian Kidney Chromosomes, Human, Pair 9 Liver

Organisms10

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

Diseases82

Syndrome Bloom Syndrome Werner Syndrome Bardet-Biedl Syndrome Down Syndrome Abnormalities, Multiple Kallmann Syndrome Mandibulofacial Dysostosis Smith-Lemli-Opitz Syndrome Peutz-Jeghers Syndrome Chediak-Higashi Syndrome Dwarfism Metabolic Syndrome X Wolfram Syndrome Hermanski-Pudlak Syndrome Nephrotic Syndrome Sjogren's Syndrome Goiter DiGeorge Syndrome Turner Syndrome Trisomy Myelodysplastic Syndromes Cushing Syndrome Eye Abnormalities Polycystic Ovary Syndrome Acute Coronary Syndrome Williams Syndrome Aneuploidy Horner Syndrome Long QT Syndrome Prader-Willi Syndrome Genetic Predisposition to Disease Guillain-Barre Syndrome Polyploidy Hemolytic-Uremic Syndrome Disease Models, Animal Tourette Syndrome Compartment Syndromes Antiphospholipid Syndrome Porcine Reproductive and Respiratory Syndrome Chromosome Aberrations Klinefelter Syndrome Carpal Tunnel Syndrome Chromosome Deletion Reye Syndrome Bartter Syndrome HELLP Syndrome Charcot-Marie-Tooth Disease Brugada Syndrome Ehlers-Danlos Syndrome Respiratory Distress Syndrome, Adult Angelman Syndrome Hereditary Sensory and Motor Neuropathy Severe Acute Respiratory Syndrome Intellectual Disability Restless Legs Syndrome Job Syndrome Wiskott-Aldrich Syndrome Acquired Immunodeficiency Syndrome Chromosome Disorders Paraneoplastic Syndromes Sweet Syndrome Monosomy Churg-Strauss Syndrome Sturge-Weber Syndrome Budd-Chiari Syndrome Facies Wolff-Parkinson-White Syndrome Sick Sinus Syndrome Craniofacial Abnormalities Stevens-Johnson Syndrome Usher Syndromes Sezary Syndrome Felty Syndrome Beckwith-Wiedemann Syndrome Translocation, Genetic Alagille Syndrome Hemorrhagic Fever with Renal Syndrome ACTH Syndrome, Ectopic Oculocerebrorenal Syndrome Cockayne Syndrome Stiff-Person Syndrome

Chemicals and Drugs39

RecQ Helicases Microtubule Proteins DNA Helicases Exodeoxyribonucleases Adenosine Triphosphatases Group II Chaperonins Nuclear Proteins Proteins Dosage Forms RNA, Messenger DNA Transcription Factors DNA-Binding Proteins DNA Topoisomerases, Type I Carrier Proteins Membrane Proteins Membrane Transport Proteins DNA, Complementary DNA Primers PAX2 Transcription Factor Genetic Markers Drosophila Proteins Homeodomain Proteins RNA, Long Noncoding Repressor Proteins Survival of Motor Neuron 1 Protein Saccharomyces cerevisiae Proteins Myelin Proteins RNA, Ribosomal SMN Complex Proteins Survival of Motor Neuron 2 Protein Bacterial Proteins Fungal Proteins Nerve Tissue Proteins Paired Box Transcription Factors DNA Transposable Elements Biological Markers Wiskott-Aldrich Syndrome Protein Recombinant Proteins

Analytical, Diagnostic and Therapeutic Techniques and Equipment38

Chromosome Mapping Pedigree DNA Mutational Analysis Polymerase Chain Reaction Dosage Forms Sequence Analysis, DNA Cloning, Molecular Models, Genetic In Situ Hybridization, Fluorescence Crosses, Genetic Disease Models, Animal In Situ Hybridization Treatment Outcome Oligonucleotide Array Sequence Analysis Risk Factors Karyotyping Models, Biological Gene Expression Profiling Reverse Transcriptase Polymerase Chain Reaction Comparative Genomic Hybridization Case-Control Studies Reproducibility of Results Retrospective Studies Heterozygote Detection Prospective Studies Nucleic Acid Hybridization Nucleic Acid Amplification Techniques Heteroduplex Analysis Facies Genetic Complementation Test Blotting, Southern Follow-Up Studies Analysis of Variance Cohort Studies Prevalence Magnetic Resonance Imaging Observer Variation Immunohistochemistry

Psychiatry and Psychology3

Tourette Syndrome Intellectual Disability Restless Legs Syndrome

Phenomena and Processes86

Gene Dosage Genetic Variation Mutation Phenotype Dosage Compensation, Genetic Homozygote Heterozygote Alleles Base Sequence Genotype Amino Acid Sequence Consanguinity Exons Genes, Recessive Genetic Linkage Gene Duplication Sequence Deletion Gene Expression Regulation X Chromosome Frameshift Mutation Trisomy X Chromosome Inactivation Recombination, Genetic Chromosomes, Human, Pair 21 Mutation, Missense Microsatellite Repeats Gene Deletion DNA Copy Number Variations Haploinsufficiency Polymorphism, Genetic Promoter Regions, Genetic Time Factors Polymorphism, Single Nucleotide Aneuploidy Sequence Homology, Amino Acid Genes Haplotypes Genes, Fungal Genetic Predisposition to Disease Plasmids Polyploidy Genes, X-Linked Transcription, Genetic Antigenic Variation Genomic Imprinting Gene Amplification Gene Expression Chromosome Aberrations Phylogeny Conserved Sequence Gene Frequency Species Specificity Evolution, Molecular Chromosome Deletion Gene Expression Regulation, Developmental Sex Chromosomes Pregnancy Genes, Regulator Suppression, Genetic Diploidy Ploidies Genes, Bacterial Chromosomes Genes, Dominant Genome, Human Haploidy Dose-Response Relationship, Drug Genetic Markers Seasons Chromosomes, Bacterial Monosomy Nucleic Acid Hybridization Gene Expression Regulation, Fungal Genes, Lethal Chromosomes, Human, Pair 17 Morphogenesis Temperature Multigene Family Chromosomes, Mammalian Signal Transduction Translocation, Genetic Circadian Rhythm Biological Evolution DNA Transposable Elements Selection, Genetic Chromosomes, Human, Pair 9

Disciplines and Occupations3

Geography Genetics, Population Immunohistochemistry

Information Science5

Molecular Sequence Data Base Sequence Amino Acid Sequence Phylogeny Prevalence

Named Groups1

Infant, Newborn

Health Care14

Treatment Outcome Risk Factors Case-Control Studies Reproducibility of Results Seasons Retrospective Studies Prospective Studies Temperature Follow-Up Studies Analysis of Variance Cohort Studies Age Factors Prevalence Observer Variation

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

Gene Dosage Syndrome Bloom Syndrome Werner Syndrome RecQ Helicases Genetic Variation Bardet-Biedl Syndrome Mutation Down Syndrome Microtubule Proteins Abnormalities, Multiple DNA Helicases Phenotype Kallmann Syndrome Mandibulofacial Dysostosis Dosage Compensation, Genetic Homozygote Molecular Sequence Data Smith-Lemli-Opitz Syndrome Peutz-Jeghers Syndrome Chromosome Mapping Heterozygote Chediak-Higashi Syndrome Dwarfism Metabolic Syndrome X Exodeoxyribonucleases Alleles Base Sequence Pedigree Genotype Adenosine Triphosphatases Group II Chaperonins Wolfram Syndrome Hermanski-Pudlak Syndrome DNA Mutational Analysis Nuclear Proteins Nephrotic Syndrome Proteins Amino Acid Sequence Sjogren's Syndrome Consanguinity Exons Genes, Recessive Polymerase Chain Reaction Dosage Forms Goiter Sequence Analysis, DNA Genetic Linkage DiGeorge Syndrome RNA, Messenger Gene Duplication Sequence Deletion Turner Syndrome DNA Transcription Factors Gene Expression Regulation DNA-Binding Proteins X Chromosome Frameshift Mutation Trisomy X Chromosome Inactivation Cloning, Molecular Recombination, Genetic DNA Topoisomerases, Type I Chromosomes, Human, Pair 21 Carrier Proteins Mutation, Missense Myelodysplastic Syndromes Microsatellite Repeats Gene Deletion DNA Copy Number Variations Cushing Syndrome Membrane Proteins Haploinsufficiency Eye Abnormalities Polycystic Ovary Syndrome Acute Coronary Syndrome Polymorphism, Genetic Promoter Regions, Genetic Models, Genetic Williams Syndrome Time Factors Polymorphism, Single Nucleotide Aneuploidy Cell Line Sequence Homology, Amino Acid Mice, Transgenic In Situ Hybridization, Fluorescence Mice, Inbred C57BL Genes Haplotypes Horner Syndrome Long QT Syndrome Prader-Willi Syndrome Crosses, Genetic Saccharomyces cerevisiae Genes, Fungal Genetic Predisposition to Disease Guillain-Barre Syndrome Plasmids

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