Genes, RecessiveCloning, MolecularMolecular Sequence DataBase SequenceAmino Acid SequenceConsanguinityPedigreeMutationGenomic InstabilityChromosome MappingGenomicsHomozygoteComparative Genomic HybridizationPhenotypeSequence Analysis, DNAGenomic LibraryGenetic LinkageGenomic IslandsDNA Mutational AnalysisAllelesGenomeExonsGenotypePolycystic Kidney, Autosomal RecessiveGenome, HumanHeterozygotePhylogenyPolymerase Chain ReactionGenes, DominantSyndromeModels, GeneticGenomic ImprintingDNAGenetic MarkersMutation, MissenseGenome, BacterialNucleic Acid HybridizationGenetic VariationPolymorphism, Single NucleotideLod ScoreRetinitis PigmentosaCrosses, GeneticSequence AlignmentIntronsHaplotypesAbnormalities, MultipleEvolution, MolecularGenes, LethalMicrosatellite RepeatsGene DosageIchthyosisOligonucleotide Array Sequence AnalysisDNA PrimersChromosome AberrationsCodon, NonsenseBlotting, SouthernGenesPolymorphism, GeneticSequence Homology, Nucleic AcidFrameshift MutationGenome, ViralSequence Homology, Amino AcidMicrocephalyRestriction MappingGene Expression ProfilingGenetic Predisposition to DiseaseRNA, MessengerMultigene FamilyRecombination, GeneticSpecies SpecificityDNA, ComplementaryTranscription, GeneticGenetic HeterogeneityEpidermolysis Bullosa DystrophicaGenetic Complementation TestSequence DeletionDNA, BacterialDeafnessGene DeletionGenetic TestingPoint MutationX ChromosomeChromosomes, Artificial, BacterialIntellectual DisabilityExomeGene FrequencyHypotrichosisIn Situ Hybridization, FluorescenceOpen Reading FramesChromosomes, Human, Pair 2Physical Chromosome MappingComputational BiologyHeterozygote DetectionGenetic LociGenes, PlantGenome, PlantGenetic Diseases, InbornCell LineChromosomes, Human, Pair 1Promoter Regions, Genetic