Microdeletion syndromes gene dosage. Medical search. Frequent questions

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Anatomy26

Chromosomes, Human, Pair 22 Chromosomes, Human, Pair 15 Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 3 Chromosomes, Human, Y Chromosomes, Human, Pair 16 X Chromosome Y Chromosome Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 21 Chromosomes, Artificial, Bacterial Chromosomes, Human, Pair 20 Chromosomes, Human, Pair 9 Cell Line Chromosomes, Human, Pair 5 Chromosomes, Human, Pair 1 Face Chromosomes, Human, Pair 14 Cells, Cultured Chromosomes, Human, Pair 12 Sex Chromosomes Testis Chromosomes, Bacterial Brain Chromosomes

Organisms7

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

Diseases102

Syndrome Chromosome Deletion Abnormalities, Multiple Osteopoikilosis DiGeorge Syndrome Intellectual Disability Facies Craniofacial Abnormalities Bloom Syndrome Chromosome Disorders Chromosome Breakage Werner Syndrome Chromosome Aberrations Williams Syndrome Bardet-Biedl Syndrome Sex Chromosome Disorders of Sex Development Down Syndrome Dwarfism Kallmann Syndrome Mandibulofacial Dysostosis Sex Chromosome Aberrations Azoospermia Oligospermia Smith-Lemli-Opitz Syndrome Peutz-Jeghers Syndrome Chediak-Higashi Syndrome Metabolic Syndrome X Chromosome Duplication Prader-Willi Syndrome Muscle Hypotonia Truncus Arteriosus, Persistent Wolfram Syndrome Heart Defects, Congenital Hermanski-Pudlak Syndrome Pulmonary Atresia Infertility, Male Nephrotic Syndrome Sjogren's Syndrome Angelman Syndrome 46, XX Disorders of Sex Development Fibrous Dysplasia, Polyostotic Pseudohypoparathyroidism Goiter Abnormal Karyotype Neurofibromatosis 1 Hand Deformities, Congenital Tetralogy of Fallot Smith-Magenis Syndrome Turner Syndrome Foot Deformities, Congenital Trisomy Myelodysplastic Syndromes Cleft Palate Rubinstein-Taybi Syndrome Cushing Syndrome Aortic Stenosis, Supravalvular Brachydactyly Acute Coronary Syndrome Polycystic Ovary Syndrome Eye Abnormalities Genetic Predisposition to Disease Heart Septal Defects, Ventricular Aneuploidy Horner Syndrome Long QT Syndrome Growth Disorders Translocation, Genetic Guillain-Barre Syndrome Hemolytic-Uremic Syndrome Compartment Syndromes Tourette Syndrome Antiphospholipid Syndrome Disease Models, Animal Congenital Abnormalities Porcine Reproductive and Respiratory Syndrome Androgen-Insensitivity Syndrome Hypocalcemia Klinefelter Syndrome Polyploidy Carpal Tunnel Syndrome Reye Syndrome Bartter Syndrome HELLP Syndrome Charcot-Marie-Tooth Disease Brugada Syndrome Fetal Diseases Ehlers-Danlos Syndrome Chromosome Inversion Seizures Respiratory Distress Syndrome, Adult Hereditary Sensory and Motor Neuropathy Severe Acute Respiratory Syndrome Restless Legs Syndrome Job Syndrome Wiskott-Aldrich Syndrome Paraneoplastic Syndromes Sweet Syndrome Monosomy Acquired Immunodeficiency Syndrome Churg-Strauss Syndrome Sturge-Weber Syndrome Budd-Chiari Syndrome

Chemicals and Drugs26

RecQ Helicases Microtubule Proteins DNA Helicases Exodeoxyribonucleases Seminal Plasma Proteins Adenosine Triphosphatases Nuclear Proteins Group II Chaperonins Proteins Transcription Factors DNA Dosage Forms DNA-Binding Proteins Neurofibromin 1 RNA, Messenger Membrane Proteins DNA Topoisomerases, Type I Carrier Proteins Genetic Markers Cerebroside-Sulfatase Nerve Tissue Proteins Membrane Transport Proteins DNA, Complementary PAX2 Transcription Factor Homeodomain Proteins Survival of Motor Neuron 1 Protein

Analytical, Diagnostic and Therapeutic Techniques and Equipment28

Facies Comparative Genomic Hybridization In Situ Hybridization, Fluorescence Chromosome Mapping Pedigree DNA Mutational Analysis Karyotyping Polymerase Chain Reaction Dosage Forms Sequence Analysis, DNA Oligonucleotide Array Sequence Analysis Primed In Situ Labeling Cloning, Molecular Chromosome Banding Genetic Testing Physical Chromosome Mapping Sperm Injections, Intracytoplasmic Prenatal Diagnosis Nucleic Acid Hybridization Reverse Transcriptase Polymerase Chain Reaction Disease Models, Animal Genetic Association Studies In Situ Hybridization Crosses, Genetic Case-Control Studies Treatment Outcome Models, Genetic Magnetic Resonance Imaging

Psychiatry and Psychology6

Intellectual Disability Developmental Disabilities 46, XX Disorders of Sex Development Autistic Disorder Tourette Syndrome Restless Legs Syndrome

Phenomena and Processes97

Chromosome Deletion Gene Dosage Chromosomes, Human, Pair 22 Chromosomes, Human, Pair 15 Segmental Duplications, Genomic Chromosome Breakpoints Chromosomes, Human, Pair 2 Chromosome Breakage Chromosomes, Human, Pair 17 Phenotype Gene Duplication Gene Deletion Chromosomes, Human, Pair 3 Chromosome Aberrations Chromosomes, Human, Y Mutation Dosage Compensation, Genetic Sequence Deletion Homozygote Sex Chromosome Aberrations Heterozygote Base Sequence Chromosome Duplication Haploinsufficiency Alleles Genotype Chromosomes, Human, Pair 16 Sequence Tagged Sites Exons X Chromosome Amino Acid Sequence Y Chromosome Consanguinity Genes, Recessive Genomic Imprinting Abnormal Karyotype Chromosomes, Human, Pair 7 Microsatellite Repeats Mosaicism Recombination, Genetic DNA Copy Number Variations Trisomy X Chromosome Inactivation Genetic Linkage Frameshift Mutation Haplotypes Genetic Loci Gene Expression Regulation Chromosomes, Human, Pair 21 Pregnancy Mutation, Missense Genetic Predisposition to Disease Genes, Neurofibromatosis 1 Cosmids Aneuploidy Genetic Markers Chromosomes, Artificial, Bacterial Chromosomes, Human, Pair 20 Chromosomes, Human, Pair 9 Promoter Regions, Genetic Translocation, Genetic Chromosomes, Human, Pair 5 Sequence Homology, Amino Acid Genes Genes, Fungal Chromosomes, Human, Pair 1 Polymorphism, Genetic Plasmids Nucleic Acid Hybridization Genome, Human Genes, X-Linked Polymorphism, Single Nucleotide Chromosomes, Human, Pair 14 Gene Amplification Polyploidy Gene Frequency Spermatogenesis Chromosomes, Human, Pair 12 Transcription, Genetic Homologous Recombination Gene Expression Regulation, Developmental Sex Chromosomes Conserved Sequence Gene Expression Genes, Regulator Chromosome Inversion Suppression, Genetic Time Factors Gene Rearrangement Genes, Dominant Ploidies Diploidy Monosomy Haploidy Chromosomes, Bacterial Genes, Bacterial Chromosomes

Information Science3

Molecular Sequence Data Base Sequence Amino Acid Sequence

Named Groups1

Infant, Newborn

Health Care3

Genetic Testing Case-Control Studies Treatment Outcome

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

Syndrome Chromosome Deletion Gene Dosage Abnormalities, Multiple Osteopoikilosis DiGeorge Syndrome Intellectual Disability Chromosomes, Human, Pair 22 Facies Comparative Genomic Hybridization Developmental Disabilities In Situ Hybridization, Fluorescence Chromosomes, Human, Pair 15 Segmental Duplications, Genomic Chromosome Breakpoints Chromosomes, Human, Pair 2 Craniofacial Abnormalities Bloom Syndrome Chromosome Disorders Chromosome Breakage Werner Syndrome Chromosomes, Human, Pair 17 Phenotype RecQ Helicases Gene Duplication Gene Deletion Chromosomes, Human, Pair 3 Chromosome Mapping Chromosome Aberrations Williams Syndrome Pedigree Chromosomes, Human, Y Bardet-Biedl Syndrome Sex Chromosome Disorders of Sex Development Mutation Down Syndrome Microtubule Proteins DNA Helicases Dwarfism Kallmann Syndrome Mandibulofacial Dysostosis Dosage Compensation, Genetic Sequence Deletion Homozygote Sex Chromosome Aberrations Azoospermia Oligospermia Heterozygote Molecular Sequence Data Smith-Lemli-Opitz Syndrome Peutz-Jeghers Syndrome Chediak-Higashi Syndrome Metabolic Syndrome X Exodeoxyribonucleases Base Sequence DNA Mutational Analysis Seminal Plasma Proteins Chromosome Duplication Haploinsufficiency Alleles Karyotyping Adenosine Triphosphatases Prader-Willi Syndrome Muscle Hypotonia Genotype Nuclear Proteins Polymerase Chain Reaction Truncus Arteriosus, Persistent Chromosomes, Human, Pair 16 Group II Chaperonins Wolfram Syndrome Heart Defects, Congenital Hermanski-Pudlak Syndrome Sequence Tagged Sites Pulmonary Atresia Exons Infertility, Male Nephrotic Syndrome X Chromosome Amino Acid Sequence Sjogren's Syndrome Proteins Angelman Syndrome Y Chromosome 46, XX Disorders of Sex Development Consanguinity Transcription Factors Fibrous Dysplasia, Polyostotic DNA Pseudohypoparathyroidism Genes, Recessive Genomic Imprinting Goiter Dosage Forms Abnormal Karyotype Chromosomes, Human, Pair 7 Neurofibromatosis 1 DNA-Binding Proteins Microsatellite Repeats Hand Deformities, Congenital

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