Variants genes recessive. Medical search. Frequent questions

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Anatomy26

Cell Line Chromosomes, Human, Pair 2 X Chromosome Chromosomes, Human, Pair 1 Cells, Cultured Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 6 Fibroblasts Chromosomes, Human, Pair 9 Brain Skin Chromosomes, Human, Pair 5 COS Cells Chromosomes, Human, Pair 19 Chromosomes, Human, Pair 8 Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 11 Chromosomes, Human, X Chromosomes, Human, Pair 3 HEK293 Cells Chromosomes, Human, Pair 10 Kidney Chromosomes, Human, Pair 15 Hybrid Cells HeLa Cells Chromosomes, Human, Pair 4

Organisms6

Escherichia coli Mice, Mutant Strains Drosophila melanogaster Saccharomyces cerevisiae Cricetinae Mice, Inbred C57BL

Diseases70

Genetic Predisposition to Disease Polycystic Kidney, Autosomal Recessive Syndrome Retinitis Pigmentosa Abnormalities, Multiple Ichthyosis Microcephaly Epidermolysis Bullosa Dystrophica Deafness Hypotrichosis Intellectual Disability Genetic Diseases, Inborn Hearing Loss, Sensorineural Angina Pectoris, Variant Ichthyosiform Erythroderma, Congenital Cerebellar Ataxia Osteochondrodysplasias Dwarfism Ichthyosis, Lamellar Muscular Dystrophies Metabolism, Inborn Errors Bone Diseases, Developmental Hearing Loss Eye Diseases, Hereditary Epidermolysis Bullosa Chromosome Disorders Osteopetrosis Charcot-Marie-Tooth Disease Myotonia Congenita Microphthalmos Retinal Degeneration Ectodermal Dysplasia Friedreich Ataxia Nails, Malformed Arthrogryposis Eye Abnormalities Disease Models, Animal Albinism, Oculocutaneous Syndactyly Dysostoses Genetic Diseases, X-Linked Kidney Diseases, Cystic Facies Amino Acid Metabolism, Inborn Errors Cutis Laxa Muscular Atrophy, Spinal Hair Diseases Foot Deformities, Congenital Hereditary Sensory and Autonomic Neuropathies Spastic Paraplegia, Hereditary Acidosis, Renal Tubular Keratoderma, Palmoplantar Polycystic Kidney Diseases Sex Chromosome Aberrations Craniofacial Abnormalities Hand Deformities, Congenital Ataxia Muscular Diseases Optic Atrophy Fanconi Anemia Usher Syndromes Muscle Hypotonia Limb Deformities, Congenital Cystinosis Ataxia Telangiectasia Night Blindness Chromosome Aberrations Osteogenesis Imperfecta Parkinsonian Disorders Retinal Dystrophies

Chemicals and Drugs29

Codon, Nonsense Genetic Markers Protein Isoforms DNA Primers RNA, Messenger Membrane Proteins DNA DNA, Complementary Eye Proteins Recombinant Proteins Collagen Type VII Variant Surface Glycoproteins, Trypanosoma Proteins RNA Splice Sites Carrier Proteins DNA-Binding Proteins Mutant Proteins Ethyl Methanesulfonate Nerve Tissue Proteins Transcription Factors Ethylnitrosourea Hemoglobins, Abnormal Nuclear Proteins Ubiquitin-Protein Ligases Bacterial Proteins Sarcoglycans Codon, Terminator ATP-Binding Cassette Transporters Survival of Motor Neuron 1 Protein

Analytical, Diagnostic and Therapeutic Techniques and Equipment35

Pedigree Chromosome Mapping DNA Mutational Analysis Sequence Analysis, DNA Polymerase Chain Reaction Genome-Wide Association Study Genetic Association Studies Case-Control Studies Amino Acid Substitution Crosses, Genetic Models, Genetic Genetic Testing Cloning, Molecular Heterozygote Detection Sequence Alignment Genetic Complementation Test Models, Molecular Reverse Transcriptase Polymerase Chain Reaction Mutagenesis, Site-Directed Risk Factors Transfection Pigmentation Cohort Studies Electroretinography Disease Models, Animal Blotting, Western Genotyping Techniques High-Throughput Nucleotide Sequencing Facies Mutagenesis, Insertional Immunohistochemistry Inbreeding Blotting, Southern Physical Chromosome Mapping Electrophoresis, Polyacrylamide Gel

Psychiatry and Psychology4

Intellectual Disability Family Siblings Nuclear Family

Phenomena and Processes98

Genes, Recessive Genetic Variation Base Sequence Amino Acid Sequence Consanguinity Mutation Homozygote Genotype Phenotype Alleles Polymorphism, Single Nucleotide Genetic Predisposition to Disease Mutation, Missense Genetic Linkage Heterozygote Haplotypes Exons Alternative Splicing Gene Frequency Polymorphism, Genetic Genes, Dominant Exome Lod Score Amino Acid Substitution Codon, Nonsense Genes, Lethal Genetic Markers Point Mutation Frameshift Mutation Genetic Heterogeneity Sequence Deletion Sequence Homology, Amino Acid Founder Effect Polymorphism, Single-Stranded Conformational Introns Microsatellite Repeats Protein Structure, Tertiary Inheritance Patterns Genetic Loci Chromosomes, Human, Pair 2 X Chromosome Genome, Human Polymorphism, Restriction Fragment Length Chromosomes, Human, Pair 1 Mutagenesis Protein Binding Gene Deletion RNA Splicing Hair Color RNA Splice Sites Phylogeny Penetrance Transfection Gene Expression Suppression, Genetic Genes Recombination, Genetic Binding Sites Pigmentation Kinetics Promoter Regions, Genetic Chromosomes, Human, Pair 16 Gene Expression Regulation Transcription, Genetic Chromosomes, Human, Pair 6 Protein Conformation Epistasis, Genetic Species Specificity Chromosomes, Human, Pair 9 Selection, Genetic Antigenic Variation Evolution, Molecular Plasmids Conserved Sequence Chromosomes, Human, Pair 5 Genes, Plant DNA Copy Number Variations Chromosomes, Human, Pair 19 Mutagenesis, Insertional Structure-Activity Relationship Chromosomes, Human, Pair 8 Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 11 Chromosomes, Human, X Gene Dosage Sex Chromosome Aberrations Sequence Homology, Nucleic Acid Codon, Terminator Chromosomes, Human, Pair 3 Genetic Load Inbreeding Chromosomes, Human, Pair 10 Quantitative Trait Loci Protein Structure, Secondary Chromosome Aberrations Chromosomes, Human, Pair 15 Drug Resistance Chromosomes, Human, Pair 4

Disciplines and Occupations2

Genetics, Population Immunohistochemistry

Anthropology, Education, Sociology and Social Phenomena3

Family Siblings Nuclear Family

Information Science4

Molecular Sequence Data Base Sequence Amino Acid Sequence Phylogeny

Named Groups6

Asian Continental Ancestry Group European Continental Ancestry Group Infant, Newborn Arabs Jews Siblings

Health Care7

Genome-Wide Association Study Case-Control Studies Genetic Testing Family Health Age of Onset Risk Factors Cohort Studies

Geographicals5

Pakistan Tunisia China Lebanon Italy

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

Genes, Recessive Genetic Variation Molecular Sequence Data Base Sequence Amino Acid Sequence Escherichia coli Consanguinity Mutation Pedigree Homozygote Genotype Phenotype Alleles Polymorphism, Single Nucleotide Genetic Predisposition to Disease Chromosome Mapping DNA Mutational Analysis Mutation, Missense Genetic Linkage Heterozygote Haplotypes Exons Alternative Splicing Polycystic Kidney, Autosomal Recessive Gene Frequency Polymorphism, Genetic Genes, Dominant Syndrome Sequence Analysis, DNA Exome Retinitis Pigmentosa Lod Score Polymerase Chain Reaction Genome-Wide Association Study Genetic Association Studies Case-Control Studies Abnormalities, Multiple Amino Acid Substitution Codon, Nonsense Genes, Lethal Ichthyosis Crosses, Genetic Genetic Markers Point Mutation Frameshift Mutation Models, Genetic Microcephaly Protein Isoforms Cell Line Genetic Testing Epidermolysis Bullosa Dystrophica Genetic Heterogeneity DNA Primers Deafness Cloning, Molecular Heterozygote Detection RNA, Messenger Hypotrichosis Family Health Sequence Deletion Sequence Alignment Intellectual Disability Asian Continental Ancestry Group Sequence Homology, Amino Acid Membrane Proteins Founder Effect DNA Polymorphism, Single-Stranded Conformational Genetic Complementation Test Introns Microsatellite Repeats Genetic Diseases, Inborn Protein Structure, Tertiary Inheritance Patterns Genetic Loci Age of Onset Models, Molecular Chromosomes, Human, Pair 2 Pakistan X Chromosome European Continental Ancestry Group Hearing Loss, Sensorineural Genome, Human Angina Pectoris, Variant Ichthyosiform Erythroderma, Congenital Cerebellar Ataxia Osteochondrodysplasias Polymorphism, Restriction Fragment Length Dwarfism Chromosomes, Human, Pair 1 DNA, Complementary Mutagenesis Protein Binding Ichthyosis, Lamellar Muscular Dystrophies Gene Deletion Eye Proteins Infant, Newborn Reverse Transcriptase Polymerase Chain Reaction Recombinant Proteins

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