Duplication syndromes gene dosage. Medical search. Frequent questions

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Anatomy18

Chromosomes, Human, Pair 15 X Chromosome Chromosomes, Human, Pair 21 Centrioles Cell Line Chromosomes, Human, Pair 17 Centrosome Chromosomes Chromosomes, Bacterial Sex Chromosomes Chromosomes, Human, X Cells, Cultured Chromosomes, Human, Pair 22 Brain Chromosomes, Human, Pair 7 Chromosomes, Mammalian Chromosomes, Human, Pair 9 Chromosomes, Artificial, Bacterial

Organisms14

Saccharomyces cerevisiae Vertebrates Mice, Transgenic Mice, Inbred C57BL Escherichia coli Drosophila melanogaster Mice, Mutant Strains Drosophila Mice, Knockout Porcine respiratory and reproductive syndrome virus Chordata, Nonvertebrate Arabidopsis Angiosperms Fishes

Diseases78

Mental Retardation, X-Linked Syndrome Smith-Magenis Syndrome Intellectual Disability Bloom Syndrome Werner Syndrome Chromosome Duplication Abnormalities, Multiple Bardet-Biedl Syndrome Down Syndrome Kallmann Syndrome Mandibulofacial Dysostosis Smith-Lemli-Opitz Syndrome Peutz-Jeghers Syndrome Chediak-Higashi Syndrome Dwarfism Metabolic Syndrome X Wolfram Syndrome Hermanski-Pudlak Syndrome Trisomy Nephrotic Syndrome Sjogren's Syndrome DiGeorge Syndrome Polyploidy Goiter Chromosome Aberrations Turner Syndrome Chromosome Deletion Charcot-Marie-Tooth Disease Aneuploidy Prader-Willi Syndrome Williams Syndrome Myelodysplastic Syndromes Eye Abnormalities Cushing Syndrome Digestive System Abnormalities Chromosome Disorders Acute Coronary Syndrome Polycystic Ovary Syndrome Horner Syndrome Angelman Syndrome Translocation, Genetic Long QT Syndrome Pelizaeus-Merzbacher Disease Guillain-Barre Syndrome Hereditary Sensory and Motor Neuropathy Disease Models, Animal Hemolytic-Uremic Syndrome Facies Compartment Syndromes Tourette Syndrome Chromosome Breakage Chromosome Inversion Antiphospholipid Syndrome Ehlers-Danlos Syndrome Porcine Reproductive and Respiratory Syndrome Klinefelter Syndrome Carpal Tunnel Syndrome Esophageal Cyst Reye Syndrome Bartter Syndrome Craniofacial Abnormalities HELLP Syndrome Brugada Syndrome Genetic Predisposition to Disease Cysts Respiratory Distress Syndrome, Adult Monosomy Severe Acute Respiratory Syndrome Restless Legs Syndrome Sex Chromosome Aberrations Job Syndrome Wiskott-Aldrich Syndrome Beckwith-Wiedemann Syndrome Paraneoplastic Syndromes Sweet Syndrome Acquired Immunodeficiency Syndrome Hand Deformities, Congenital

Chemicals and Drugs34

Methyl-CpG-Binding Protein 2 RecQ Helicases Microtubule Proteins DNA Helicases Exodeoxyribonucleases Adenosine Triphosphatases Nuclear Proteins Group II Chaperonins Proteins DNA RNA, Messenger Transcription Factors Dosage Forms DNA-Binding Proteins Carrier Proteins DNA Topoisomerases, Type I Membrane Proteins DNA Transposable Elements DNA, Complementary Membrane Transport Proteins fms-Like Tyrosine Kinase 3 Homeodomain Proteins DNA Primers Drosophila Proteins Saccharomyces cerevisiae Proteins Myelin Proteins Fungal Proteins Genetic Markers Repressor Proteins PAX2 Transcription Factor Bacterial Proteins Survival of Motor Neuron 1 Protein RNA, Long Noncoding Cell Cycle Proteins

Analytical, Diagnostic and Therapeutic Techniques and Equipment29

Chromosome Mapping Pedigree DNA Mutational Analysis Sequence Analysis, DNA Cloning, Molecular Polymerase Chain Reaction In Situ Hybridization, Fluorescence Models, Genetic Dosage Forms Comparative Genomic Hybridization Karyotyping Sequence Alignment Crosses, Genetic Blotting, Southern In Situ Hybridization Nucleic Acid Hybridization Disease Models, Animal Facies Oligonucleotide Array Sequence Analysis Restriction Mapping Reverse Transcriptase Polymerase Chain Reaction Gene Expression Profiling Chromosome Banding Treatment Outcome Nucleic Acid Amplification Techniques Genetic Complementation Test Mutagenesis, Insertional Heterozygote Detection Models, Biological

Psychiatry and Psychology4

Intellectual Disability Autistic Disorder Tourette Syndrome Restless Legs Syndrome

Phenomena and Processes106

Gene Duplication Gene Dosage Chromosomes, Human, Pair 15 Segmental Duplications, Genomic Chromosome Duplication Mutation Phenotype Evolution, Molecular Base Sequence Dosage Compensation, Genetic Homozygote Multigene Family Heterozygote Amino Acid Sequence Phylogeny Genes, Duplicate Alleles Exons Genotype Trisomy Recombination, Genetic Sequence Deletion Gene Deletion Genes, Recessive Genetic Linkage Consanguinity X Chromosome Sequence Homology, Amino Acid Polyploidy Frameshift Mutation Chromosome Aberrations Gene Expression Regulation X Chromosome Inactivation Genes Chromosome Deletion Chromosomes, Human, Pair 21 Synteny DNA Copy Number Variations Aneuploidy Conserved Sequence Tandem Repeat Sequences Genes, Fungal Mutation, Missense Genome Haploinsufficiency Genetic Variation Microsatellite Repeats Plasmids Promoter Regions, Genetic Pseudogenes Chromosomes, Human, Pair 17 DNA Transposable Elements Genome, Human Gene Amplification Biological Evolution Gene Rearrangement Transcription, Genetic Chromosomes Repetitive Sequences, Nucleic Acid Gene Expression Regulation, Developmental Genome, Plant Species Specificity Sequence Homology, Nucleic Acid Genes, X-Linked Genomic Imprinting Diploidy Gene Expression Translocation, Genetic Introns Chromosomes, Bacterial Nucleic Acid Hybridization Sex Chromosomes Chromosomes, Human, X Suppression, Genetic Ploidies Chromosome Breakage Genes, Bacterial Chromosome Inversion Time Factors Genes, Regulator Polymorphism, Genetic Haploidy Genes, Dominant Genes, Lethal Chromosomes, Human, Pair 22 Genes, Plant Mosaicism Genetic Predisposition to Disease Genetic Markers Mutagenesis, Insertional Pregnancy DNA Replication Gene Expression Regulation, Fungal Morphogenesis Monosomy Genome, Fungal Selection, Genetic Chromosomes, Human, Pair 7 Chromosomes, Mammalian Gene Order Chromosomes, Human, Pair 9 Haplotypes Sex Chromosome Aberrations Chromosomes, Artificial, Bacterial Gene Expression Regulation, Plant Signal Transduction

Disciplines and Occupations1

Information Science4

Molecular Sequence Data Base Sequence Amino Acid Sequence Phylogeny

Named Groups1

Infant, Newborn

Health Care1

Treatment Outcome

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

Gene Duplication Methyl-CpG-Binding Protein 2 Mental Retardation, X-Linked Syndrome Gene Dosage Smith-Magenis Syndrome Chromosomes, Human, Pair 15 Intellectual Disability Autistic Disorder Bloom Syndrome Werner Syndrome RecQ Helicases Segmental Duplications, Genomic Chromosome Duplication Mutation Abnormalities, Multiple Bardet-Biedl Syndrome Molecular Sequence Data Down Syndrome Microtubule Proteins Phenotype Chromosome Mapping DNA Helicases Evolution, Molecular Base Sequence Dosage Compensation, Genetic Kallmann Syndrome Mandibulofacial Dysostosis Homozygote Multigene Family Heterozygote Smith-Lemli-Opitz Syndrome Pedigree Peutz-Jeghers Syndrome Amino Acid Sequence Chediak-Higashi Syndrome Dwarfism Phylogeny Exodeoxyribonucleases Metabolic Syndrome X Genes, Duplicate Alleles Adenosine Triphosphatases Exons DNA Mutational Analysis Nuclear Proteins Group II Chaperonins Wolfram Syndrome Hermanski-Pudlak Syndrome Genotype Sequence Analysis, DNA Proteins Cloning, Molecular Trisomy Recombination, Genetic Sequence Deletion Polymerase Chain Reaction In Situ Hybridization, Fluorescence Nephrotic Syndrome Models, Genetic Gene Deletion Genes, Recessive Genetic Linkage Sjogren's Syndrome Consanguinity DNA X Chromosome Sequence Homology, Amino Acid DiGeorge Syndrome RNA, Messenger Transcription Factors Polyploidy Goiter Dosage Forms Frameshift Mutation DNA-Binding Proteins Chromosome Aberrations Gene Expression Regulation X Chromosome Inactivation Genes Comparative Genomic Hybridization Turner Syndrome Chromosome Deletion Charcot-Marie-Tooth Disease Chromosomes, Human, Pair 21 Synteny Karyotyping DNA Copy Number Variations Aneuploidy Conserved Sequence Carrier Proteins Centrioles Tandem Repeat Sequences Prader-Willi Syndrome Sequence Alignment Williams Syndrome Saccharomyces cerevisiae DNA Topoisomerases, Type I Genes, Fungal Membrane Proteins

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