Genetic HeterogeneityPedigreeGenetic LinkageLod ScoreGenetic VariationChromosome MappingGenetic MarkersGenes, DominantGenes, RecessivePhenotypeGenotypeConsanguinityMutationChromosomes, Human, Pair 2DNA Mutational AnalysisExomeMicrosatellite RepeatsHaplotypesSyndromeAllelesMolecular Sequence DataChromosomes, Human, Pair 19Genetic Predisposition to DiseaseHomozygotePenetranceModels, GeneticChromosomes, Human, Pair 1Sequence Analysis, DNAPolymerase Chain ReactionPolymorphism, GeneticBase SequenceFamily HealthGenetic Diseases, InbornPhylogenyIchthyosisChromosomes, Human, Pair 16Chromosomes, Human, Pair 3Polymorphism, Restriction Fragment LengthChromosomes, Human, Pair 5Age of OnsetFounder EffectChromosomes, Human, Pair 17Chromosomes, Human, Pair 6HeterozygoteAbnormalities, MultiplePolymorphism, Single NucleotideBardet-Biedl SyndromeExonsGenetic TestingGene FrequencyMutation, MissenseMultifactor Dimensionality ReductionEncephaloceleRetinitis PigmentosaGenome-Wide Association StudyChromosomes, Human, Pair 9Chromosomes, Human, Pair 7Chromosomes, Human, Pair 12FamilyChromosomes, Human, Pair 10Amino Acid SequenceChromosomes, Human, Pair 11DNAX ChromosomeDeafnessCluster AnalysisIndians, South AmericanChromosomes, Human, Pair 8MicrocephalyGenetic Association StudiesGlycosuria, RenalLeiomyoma, EpithelioidHereditary Sensory and Motor NeuropathyGenetics, PopulationGenome, HumanJewsHyperkeratosis, EpidermolyticHeterozygote DetectionChromosomes, Human, Pair 22Epistasis, GeneticOsteochondrodysplasiasItalyChromosomes, Human, Pair 15Rubinstein-Taybi SyndromeChromosomes, Human, Pair 4Linkage DisequilibriumPolymorphism, Single-Stranded ConformationalCystinuriaElectrophoresis, Starch GelDNA FingerprintingSpecies SpecificityEye AbnormalitiesIn Situ Hybridization, FluorescenceDNA, BacterialChromosomes, HumanOptic Atrophies, HereditaryIntellectual DisabilityEctodermal DysplasiaFrameshift MutationGaucher Disease