Gene DeletionSequence DeletionChromosome DeletionGenetic Diseases, InbornDiseaseChromosome MappingMutationMolecular Sequence DataPedigreeBase SequencePhenotypeGenetic LinkageGenetic MarkersMice, KnockoutDNA Mutational AnalysisHomozygoteExonsAllelesGenetic Predisposition to DiseaseGenotypeModels, GeneticPolymerase Chain ReactionAmino Acid SequenceGenome, HumanGenes, EssentialHeterozygoteHaplotypesDatabases, GeneticComputational BiologyHepatolenticular DegenerationGenesGenes, DominantGenes, RecessiveLod ScoreRecombination, GeneticHuntington DiseaseIntegrasesSequence Analysis, DNASaccharomyces cerevisiaeMice, Inbred C57BLLinkage DisequilibriumCloning, MolecularGene Regulatory NetworksGenetic TestingExomeSyndromeNerve Tissue ProteinsDNA PrimersIntellectual DisabilityPolymorphism, Single NucleotideGene Expression ProfilingPoint MutationPolymorphism, GeneticDNAProtein Interaction MappingBlotting, SouthernProtein Interaction MapsIn Situ Hybridization, FluorescenceGene Knockout TechniquesChromosomes, Human, Pair 4Chromosomes, Human, Pair 17Abnormalities, MultipleGene DosageProteinsGenetic HeterogeneityX ChromosomeChromosomes, Human, Pair 9ConsanguinityMutagenesis, InsertionalGene FrequencyAlgorithmsFrameshift MutationHeterozygote DetectionPolymorphism, Restriction Fragment LengthMultigene FamilyChromosomes, Human, XRNA, MessengerChromosomes, Human, Pair 1Cell LineTranscription, GeneticGenetics, MedicalGene Expression RegulationMuscular DystrophiesGenetic Complementation TestChromosomes, Human, Pair 16Mutation, MissenseMachado-Joseph DiseasePromoter Regions, GeneticSequence Homology, Amino AcidMicrosatellite RepeatsPlasmidsNuclear ProteinsSaccharomyces cerevisiae ProteinsGene TargetingGenomicsCarrier ProteinsGenetic StructuresGenome-Wide Association StudyDNA ProbesGenes, Fungal