Extreme genetic heterogeneity. Medical search. Frequent questions

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Anatomy24

Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 19 Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 3 Chromosomes, Human, Pair 5 Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 6 Chromosomes, Human, Pair 9 Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 10 Chromosomes, Human, Pair 12 X Chromosome Chromosomes, Human, Pair 11 Chromosomes, Human, Pair 8 Chromosomes, Human, Pair 22 Chromosomes, Human, Pair 15 Chromosomes, Human, Pair 4 Chromosomes, Human Chromosomes, Human, Pair 20 Chromosomes, Human, Pair 13 Clone Cells Fibroblasts Chromosomes, Human, Pair 14

Diseases43

Syndrome Genetic Predisposition to Disease Genetic Diseases, Inborn Ichthyosis Abnormalities, Multiple Bardet-Biedl Syndrome Encephalocele Retinitis Pigmentosa Microcephaly Deafness Glycosuria, Renal Leiomyoma, Epithelioid Hereditary Sensory and Motor Neuropathy Hyperkeratosis, Epidermolytic Osteochondrodysplasias Rubinstein-Taybi Syndrome Cystinuria Intellectual Disability Eye Abnormalities Optic Atrophies, Hereditary Ectodermal Dysplasia Gaucher Disease Chromosome Aberrations Spastic Paraplegia, Hereditary Polydactyly Familial Mediterranean Fever Muscular Dystrophies Glycogen Storage Disease Dysplastic Nevus Syndrome Eye Diseases, Hereditary Refsum Disease Usher Syndromes Hearing Loss, Sensorineural Malignant Hyperthermia Neoplastic Syndromes, Hereditary Hearing Loss Chromosome Deletion Cerebellar Ataxia Disease Susceptibility Tuberous Sclerosis Muscular Diseases Charcot-Marie-Tooth Disease Retinal Diseases

Chemicals and Drugs17

Genetic Markers DNA DNA, Bacterial DNA Primers Group II Chaperonins DNA, Mitochondrial Glucosidases DNA Probes Codon, Nonsense Glucosylceramidase Membrane Proteins DNA, Ribosomal DNA, Neoplasm Proteins DNA, Viral HLA Antigens Connexins

Analytical, Diagnostic and Therapeutic Techniques and Equipment35

Pedigree Chromosome Mapping DNA Mutational Analysis Models, Genetic Sequence Analysis, DNA Polymerase Chain Reaction Genetic Testing Genome-Wide Association Study Cluster Analysis Genetic Association Studies Heterozygote Detection DNA Fingerprinting Electrophoresis, Starch Gel In Situ Hybridization, Fluorescence Case-Control Studies Karyotyping Likelihood Functions Models, Statistical Models, Biological Random Amplified Polymorphic DNA Technique Blotting, Southern Gene Expression Profiling Bacterial Typing Techniques High-Throughput Nucleotide Sequencing Reproducibility of Results Molecular Epidemiology Electrophoresis, Gel, Pulsed-Field Oligonucleotide Array Sequence Analysis Cohort Studies Amino Acid Substitution Comparative Genomic Hybridization Sequence Alignment Serotyping Risk Factors Breeding

Psychiatry and Psychology4

Family Intellectual Disability Siblings Nuclear Family

Phenomena and Processes79

Genetic Heterogeneity Genetic Linkage Lod Score Genetic Variation Genetic Markers Phenotype Genes, Dominant Genes, Recessive Genotype Consanguinity Mutation Chromosomes, Human, Pair 2 Exome Microsatellite Repeats Haplotypes Alleles Genetic Predisposition to Disease Homozygote Chromosomes, Human, Pair 19 Penetrance Base Sequence Phylogeny Polymorphism, Genetic Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 3 Polymorphism, Restriction Fragment Length Chromosomes, Human, Pair 5 Polymorphism, Single Nucleotide Heterozygote Founder Effect Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 6 Gene Frequency Exons Amino Acid Sequence Mutation, Missense Chromosomes, Human, Pair 9 Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 10 Chromosomes, Human, Pair 12 X Chromosome Chromosomes, Human, Pair 11 Species Specificity Genome, Human Chromosomes, Human, Pair 8 Epistasis, Genetic Linkage Disequilibrium Chromosomes, Human, Pair 22 Chromosomes, Human, Pair 15 Chromosomes, Human, Pair 4 Polymorphism, Single-Stranded Conformational Chromosomes, Human Frameshift Mutation Point Mutation Loss of Heterozygosity Chromosome Aberrations Extreme Heat Chromosomes, Human, Pair 20 Recombination, Genetic Mutation Rate Codon, Nonsense Evolution, Molecular DNA Copy Number Variations Inheritance Patterns Chromosomes, Human, Pair 13 Algorithms Genetic Loci Time Factors Amino Acid Substitution Chromosome Deletion Chromosomes, Human, Pair 14 Sequence Homology, Nucleic Acid Disease Susceptibility Sequence Deletion Selection, Genetic Quantitative Trait Loci Breeding Gene Deletion

Disciplines and Occupations4

Genetics, Population Molecular Epidemiology Geography Molecular Biology

Anthropology, Education, Sociology and Social Phenomena4

Family DNA Fingerprinting Siblings Nuclear Family

Information Science7

Molecular Sequence Data Base Sequence Phylogeny Amino Acid Sequence Multifactor Dimensionality Reduction Computer Simulation Algorithms

Named Groups6

Indians, South American Jews Infant, Newborn European Continental Ancestry Group Siblings Asian Continental Ancestry Group

Health Care13

Family Health Age of Onset Genetic Testing Genome-Wide Association Study Cluster Analysis Extreme Heat Case-Control Studies Likelihood Functions Models, Statistical Reproducibility of Results Molecular Epidemiology Cohort Studies Risk Factors

Geographicals4

Italy France Spain Germany

Anatomy 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

Genetic Heterogeneity Pedigree Genetic Linkage Lod Score Genetic Variation Chromosome Mapping Genetic Markers Phenotype Genes, Dominant Genes, Recessive Genotype Consanguinity Mutation Chromosomes, Human, Pair 2 DNA Mutational Analysis Exome Microsatellite Repeats Molecular Sequence Data Haplotypes Alleles Syndrome Genetic Predisposition to Disease Homozygote Chromosomes, Human, Pair 19 Penetrance Models, Genetic Sequence Analysis, DNA Base Sequence Polymerase Chain Reaction Phylogeny Polymorphism, Genetic Chromosomes, Human, Pair 1 Family Health Genetic Diseases, Inborn Chromosomes, Human, Pair 16 Ichthyosis Chromosomes, Human, Pair 3 Polymorphism, Restriction Fragment Length Chromosomes, Human, Pair 5 Age of Onset Polymorphism, Single Nucleotide Heterozygote Founder Effect Abnormalities, Multiple Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 6 Gene Frequency Exons Bardet-Biedl Syndrome Genetic Testing Amino Acid Sequence Mutation, Missense Multifactor Dimensionality Reduction Genome-Wide Association Study Encephalocele Retinitis Pigmentosa Chromosomes, Human, Pair 9 DNA Family Chromosomes, Human, Pair 7 Cluster Analysis Chromosomes, Human, Pair 10 Chromosomes, Human, Pair 12 Genetics, Population X Chromosome Chromosomes, Human, Pair 11 Microcephaly Species Specificity Genetic Association Studies Deafness Genome, Human Indians, South American Chromosomes, Human, Pair 8 Epistasis, Genetic Jews Glycosuria, Renal Leiomyoma, Epithelioid Hereditary Sensory and Motor Neuropathy Linkage Disequilibrium Hyperkeratosis, Epidermolytic Heterozygote Detection Italy DNA, Bacterial Chromosomes, Human, Pair 22 Osteochondrodysplasias Chromosomes, Human, Pair 15 Rubinstein-Taybi Syndrome Chromosomes, Human, Pair 4 DNA Fingerprinting Polymorphism, Single-Stranded Conformational Cystinuria Electrophoresis, Starch Gel In Situ Hybridization, Fluorescence Chromosomes, Human Intellectual Disability DNA Primers Frameshift Mutation Eye Abnormalities Optic Atrophies, Hereditary Ectodermal Dysplasia

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