Humans genes recessive. Medical search. Frequent questions

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Anatomy21

X Chromosome Chromosomes, Human, Pair 2 Skin Chromosomes, Human, Pair 1 Brain Cell Line Muscle, Skeletal Cells, Cultured Chromosomes, Human, Pair 16 Fibroblasts Kidney Chromosomes, Human, Pair 19 Liver Chromosomes, Human, X Chromosomes, Human, Pair 6 Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 5 Fundus Oculi Chromosomes, Human, Pair 11 Hybrid Cells Chromosomes, Human, Pair 3

Organisms10

Mice, Mutant Strains Mice, Inbred C57BL Dogs Pan troglodytes Drosophila melanogaster Mice, Knockout Hominidae Saccharomyces cerevisiae Mice, Transgenic Mice, Inbred Strains

Diseases90

Polycystic Kidney, Autosomal Recessive Syndrome Retinitis Pigmentosa Abnormalities, Multiple Ichthyosis Microcephaly Deafness Epidermolysis Bullosa Dystrophica Hypotrichosis Intellectual Disability Disease Models, Animal Genetic Predisposition to Disease Ichthyosiform Erythroderma, Congenital Hearing Loss, Sensorineural Cerebellar Ataxia Osteochondrodysplasias Genetic Diseases, Inborn Ichthyosis, Lamellar Dwarfism Muscular Dystrophies Bone Diseases, Developmental Metabolism, Inborn Errors Eye Diseases, Hereditary Epidermolysis Bullosa Osteopetrosis Hearing Loss Myotonia Congenita Ectodermal Dysplasia Charcot-Marie-Tooth Disease Retinal Degeneration Dysostoses Friedreich Ataxia Microphthalmos Albinism, Oculocutaneous Dog Diseases Syndactyly Chromosome Disorders Eye Abnormalities Nails, Malformed Kidney Diseases, Cystic Muscular Atrophy, Spinal Arthrogryposis Cutis Laxa Genetic Diseases, X-Linked Foot Deformities, Congenital Acidosis, Renal Tubular Amino Acid Metabolism, Inborn Errors Hair Diseases Polycystic Kidney Diseases Craniofacial Abnormalities Hereditary Sensory and Autonomic Neuropathies Spastic Paraplegia, Hereditary Muscular Diseases Muscle Hypotonia Facies Optic Atrophy Zoonoses Cystinosis Sex Chromosome Aberrations Limb Deformities, Congenital Night Blindness Fanconi Anemia Ataxia Keratoderma, Palmoplantar Hand Deformities, Congenital Cataract Parkinsonian Disorders Bardet-Biedl Syndrome Osteogenesis Imperfecta Tooth Abnormalities Spinal Muscular Atrophies of Childhood Usher Syndromes Granulomatous Disease, Chronic Ataxia Telangiectasia Ectromelia Blindness Agenesis of Corpus Callosum Immunologic Deficiency Syndromes Lipoid Proteinosis of Urbach and Wiethe Spinocerebellar Ataxias Polydactyly Amelogenesis Imperfecta Leber Congenital Amaurosis Methemoglobinemia Muscular Dystrophies, Limb-Girdle Chromosome Aberrations Retinal Dystrophies Pseudoxanthoma Elasticum Albinism Familial Mediterranean Fever

Chemicals and Drugs26

Codon, Nonsense Genetic Markers Collagen Type VII Membrane Proteins Eye Proteins DNA Primers RNA, Messenger DNA Ethyl Methanesulfonate Ethylnitrosourea Proteins Sarcoglycans Survival of Motor Neuron 1 Protein Carrier Proteins Nerve Tissue Proteins RNA Splice Sites Ubiquitin-Protein Ligases DNA, Complementary SMN Complex Proteins DNA-Binding Proteins Transcription Factors Codon, Terminator Cyclic Nucleotide Phosphodiesterases, Type 6 Connexins RecQ Helicases Iron-Binding Proteins

Analytical, Diagnostic and Therapeutic Techniques and Equipment30

Pedigree Chromosome Mapping DNA Mutational Analysis Crosses, Genetic Sequence Analysis, DNA Disease Models, Animal Models, Genetic Heterozygote Detection Polymerase Chain Reaction Genetic Complementation Test Genetic Testing Electroretinography Sequence Alignment Genetic Association Studies Pigmentation Cloning, Molecular Amino Acid Substitution Models, Biological Case-Control Studies Facies Inbreeding Magnetic Resonance Imaging Physical Chromosome Mapping Reverse Transcriptase Polymerase Chain Reaction Reference Values Mutagenesis, Insertional Immunohistochemistry Prenatal Diagnosis Fatal Outcome Blotting, Western

Psychiatry and Psychology4

Intellectual Disability Family Nuclear Family Siblings

Phenomena and Processes83

Genes, Recessive Consanguinity Mutation Homozygote Phenotype Genetic Linkage Genes, Dominant Heterozygote Alleles Mutation, Missense Base Sequence Genotype Lod Score Genes, Lethal Amino Acid Sequence Codon, Nonsense Haplotypes Exons Frameshift Mutation Genetic Markers Genetic Predisposition to Disease Genetic Heterogeneity Microsatellite Repeats Exome Species Specificity X Chromosome Founder Effect Polymorphism, Single Nucleotide Polymorphism, Genetic Point Mutation Gene Frequency Chromosomes, Human, Pair 2 Genetic Variation Inheritance Patterns Polymorphism, Single-Stranded Conformational Sequence Deletion Sequence Homology, Amino Acid Suppression, Genetic Chromosomes, Human, Pair 1 Pigmentation Time Factors Gene Deletion Amino Acid Substitution Introns Mutagenesis Phylogeny Hair Color Polymorphism, Restriction Fragment Length Penetrance Genes, Plant Chromosomes, Human, Pair 16 Recombination, Genetic Sex Chromosome Aberrations Inbreeding Gene Expression Chromosomes, Human, Pair 19 Gene Expression Regulation RNA Splice Sites Genes Chromosomes, Human, X Genetic Load Chromosomes, Human, Pair 6 Genetic Loci Protein Structure, Tertiary Evolution, Molecular Pregnancy Genome, Human Biological Evolution Diploidy Genes, Suppressor Codon, Terminator Epistasis, Genetic Linkage Disequilibrium Chromosomes, Human, Pair 7 Genes, Fungal Chromosomes, Human, Pair 5 Mutagenesis, Insertional Chromosomes, Human, Pair 11 Selection, Genetic Chromosomes, Human, Pair 3 Chromosome Aberrations Conserved Sequence Aging

Disciplines and Occupations1

Immunohistochemistry

Anthropology, Education, Sociology and Social Phenomena3

Family Nuclear Family Siblings

Information Science5

Molecular Sequence Data Base Sequence Amino Acid Sequence Phylogeny Fatal Outcome

Named Groups5

Infant, Newborn Arabs Jews Asian Continental Ancestry Group Siblings

Health Care5

Family Health Genetic Testing Age of Onset Case-Control Studies Fatal Outcome

Geographicals5

Pakistan Tunisia Lebanon Syria Israel

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

Genes, Recessive Consanguinity Pedigree Mutation Homozygote Phenotype Chromosome Mapping Genetic Linkage Polycystic Kidney, Autosomal Recessive Molecular Sequence Data DNA Mutational Analysis Syndrome Genes, Dominant Heterozygote Alleles Mutation, Missense Retinitis Pigmentosa Base Sequence Genotype Lod Score Genes, Lethal Abnormalities, Multiple Ichthyosis Crosses, Genetic Amino Acid Sequence Codon, Nonsense Haplotypes Microcephaly Exons Deafness Epidermolysis Bullosa Dystrophica Frameshift Mutation Hypotrichosis Genetic Markers Sequence Analysis, DNA Intellectual Disability Disease Models, Animal Models, Genetic Genetic Predisposition to Disease Heterozygote Detection Genetic Heterogeneity Polymerase Chain Reaction Microsatellite Repeats Exome Genetic Complementation Test Species Specificity X Chromosome Founder Effect Polymorphism, Single Nucleotide Family Health Polymorphism, Genetic Ichthyosiform Erythroderma, Congenital Hearing Loss, Sensorineural Point Mutation Pakistan Cerebellar Ataxia Osteochondrodysplasias Gene Frequency Genetic Diseases, Inborn Ichthyosis, Lamellar Dwarfism Muscular Dystrophies Mice, Mutant Strains Genetic Testing Chromosomes, Human, Pair 2 Collagen Type VII Membrane Proteins Genetic Variation Inheritance Patterns Bone Diseases, Developmental Polymorphism, Single-Stranded Conformational Eye Proteins Metabolism, Inborn Errors Eye Diseases, Hereditary DNA Primers Infant, Newborn Sequence Deletion Epidermolysis Bullosa Mice, Inbred C57BL Osteopetrosis Skin RNA, Messenger Sequence Homology, Amino Acid Hearing Loss Suppression, Genetic Arabs Age of Onset Myotonia Congenita Electroretinography Dogs Ectodermal Dysplasia Pan troglodytes Charcot-Marie-Tooth Disease Chromosomes, Human, Pair 1 Retinal Degeneration Sequence Alignment DNA Dysostoses Genetic Association Studies Pigmentation

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