Humans haploinsufficiency. Medical search. Frequent questions

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Anatomy6

Chromosomes, Human, Pair 5 Chromosomes, Human, Pair 22 Chromosomes, Human, Pair 7 Cranial Sutures Embryo, Mammalian Brain

Organisms5

Mice, Knockout Mice, Mutant Strains Mice, Inbred C57BL Mice, Transgenic Mice, 129 Strain

Diseases56

Abnormalities, Multiple Williams Syndrome Syndrome Chromosome Deletion Aortic Stenosis, Supravalvular Intellectual Disability Smith-Magenis Syndrome Craniofacial Abnormalities Ehlers-Danlos Syndrome Facies Disease Models, Animal Mandibulofacial Dysostosis Alagille Syndrome DiGeorge Syndrome Acrocephalosyndactylia Microcephaly Anemia, Macrocytic Monosomy Anemia, Diamond-Blackfan Cleidocranial Dysplasia Limb Deformities, Congenital 22q11 Deletion Syndrome Nervous System Malformations Chromosome Breakage Neurofibromatosis 1 Wolf-Hirschhorn Syndrome Cri-du-Chat Syndrome Turner Syndrome Hand Deformities, Congenital Carney Complex Skin Abnormalities Telangiectasia, Hereditary Hemorrhagic Anticipation, Genetic Nail-Patella Syndrome Eye Abnormalities Dyskeratosis Congenita Embryo Loss Waardenburg Syndrome Synostosis Musculoskeletal Abnormalities Gigantism Translocation, Genetic Keratoderma, Palmoplantar Agenesis of Corpus Callosum Aniridia Epilepsies, Myoclonic Growth Disorders Upper Extremity Deformities, Congenital Genomic Instability Holoprosencephaly Coloboma Tooth Abnormalities Genetic Predisposition to Disease Cleft Palate Osteochondrodysplasias Autoimmune Lymphoproliferative Syndrome

Chemicals and Drugs21

Codon, Nonsense Homeodomain Proteins Transcription Factors Neurofibromin 1 Twist Transcription Factor DNA-Binding Proteins Paired Box Transcription Factors PAX9 Transcription Factor Collagen Type V T-Box Domain Proteins Codon, Terminator Nuclear Proteins Cyclic AMP-Dependent Protein Kinase RIalpha Subunit Eye Proteins Elastin RNA, Messenger Repressor Proteins DNA Primers Hepatocyte Nuclear Factor 3-gamma Receptor, Notch2 RNA Splice Sites

Analytical, Diagnostic and Therapeutic Techniques and Equipment10

Pedigree Facies Disease Models, Animal DNA Mutational Analysis Comparative Genomic Hybridization In Situ Hybridization, Fluorescence Gene Targeting Chromosome Mapping Reverse Transcriptase Polymerase Chain Reaction Karyotyping

Psychiatry and Psychology2

Intellectual Disability Developmental Disabilities

Phenomena and Processes38

Haploinsufficiency Haploidy Heterozygote Phenotype Mutation Chromosome Deletion Gene Deletion Haplotypes Gene Dosage Codon, Nonsense Frameshift Mutation Genes, Neurofibromatosis 1 Alleles Hemizygote Genes, Dominant Chromosomes, Human, Pair 5 Loss of Heterozygosity Chromosomes, Human, Pair 22 Base Sequence Mutation, Missense Monosomy Genotype Chromosome Breakage Gene Expression Regulation, Developmental Sequence Deletion Codon, Terminator Chromosomes, Human, Pair 7 Anticipation, Genetic Penetrance Signal Transduction Homozygote Nonsense Mediated mRNA Decay Translocation, Genetic Exons Genomic Instability Genetic Predisposition to Disease Gene Expression Regulation RNA Splice Sites

Information Science2

Molecular Sequence Data Base Sequence

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

Haploinsufficiency Haploidy Heterozygote Phenotype Mutation Abnormalities, Multiple Williams Syndrome Syndrome Chromosome Deletion Gene Deletion Aortic Stenosis, Supravalvular Intellectual Disability Smith-Magenis Syndrome Mice, Knockout Mice, Mutant Strains Mice, Inbred C57BL Haplotypes Gene Dosage Pedigree Craniofacial Abnormalities Codon, Nonsense Frameshift Mutation Ehlers-Danlos Syndrome Homeodomain Proteins Transcription Factors Genes, Neurofibromatosis 1 Alleles Facies Hemizygote Disease Models, Animal Mandibulofacial Dysostosis Alagille Syndrome Genes, Dominant DiGeorge Syndrome Acrocephalosyndactylia Mice, Transgenic Chromosomes, Human, Pair 5 Microcephaly DNA Mutational Analysis Loss of Heterozygosity Molecular Sequence Data Chromosomes, Human, Pair 22 Base Sequence Anemia, Macrocytic Comparative Genomic Hybridization Mutation, Missense Monosomy Anemia, Diamond-Blackfan Cleidocranial Dysplasia Limb Deformities, Congenital 22q11 Deletion Syndrome Neurofibromin 1 Twist Transcription Factor DNA-Binding Proteins Nervous System Malformations Paired Box Transcription Factors Genotype Chromosome Breakage PAX9 Transcription Factor In Situ Hybridization, Fluorescence Neurofibromatosis 1 Gene Expression Regulation, Developmental Collagen Type V T-Box Domain Proteins Sequence Deletion Codon, Terminator Chromosomes, Human, Pair 7 Cranial Sutures Wolf-Hirschhorn Syndrome Cri-du-Chat Syndrome Turner Syndrome Nuclear Proteins Hand Deformities, Congenital Carney Complex Skin Abnormalities Telangiectasia, Hereditary Hemorrhagic Anticipation, Genetic Nail-Patella Syndrome Eye Abnormalities Penetrance Cyclic AMP-Dependent Protein Kinase RIalpha Subunit Eye Proteins Signal Transduction Embryo, Mammalian Elastin Homozygote Dyskeratosis Congenita Embryo Loss Nonsense Mediated mRNA Decay Mice, 129 Strain RNA, Messenger Waardenburg Syndrome Synostosis Musculoskeletal Abnormalities Gigantism Gene Targeting Translocation, Genetic Keratoderma, Palmoplantar Agenesis of Corpus Callosum Aniridia

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