Genes, DominantPedigreeTelangiectasia, Hereditary HemorrhagicMutationSyndromeGenetic LinkageMutation, MissenseDNA Mutational AnalysisPhenotypeChromosome DuplicationBase SequencePolycystic Kidney, Autosomal DominantMolecular Sequence DataAngelman SyndromePolymerase Chain ReactionGenetic Diseases, InbornProtoporphyria, ErythropoieticDNA GlycosylasesMuscular Dystrophy, FacioscapulohumeralGenes, RecessiveHeterozygoteDNA-Formamidopyrimidine GlycosylaseAllelesGenetic MarkersExonsGenetic TestingHaplotypesHomozygoteGenotypeLod ScoreTRPP Cation ChannelsProtein Interaction MapsPoint MutationRetinitis PigmentosaDown SyndromeMetabolic Syndrome XNervous SystemUbiquitin-Protein LigasesOptic Atrophy, Autosomal DominantN-Glycosyl HydrolasesAbnormalities, MultipleChromosome MappingDisease Models, AnimalPolycystic Kidney DiseasesCataractCADASILNephrotic SyndromeDrosophila ProteinsPolymorphism, GeneticSjogren's SyndromeGenetic HeterogeneityGenetic Predisposition to DiseasePenetranceFamily HealthHand Deformities, CongenitalSpinocerebellar DegenerationsCerebellar AtaxiaAge of OnsetDementia, Multi-InfarctChromosome DisordersDeoxyguanosineFrameshift MutationFoot Deformities, CongenitalChromosomes, Human, Pair 2Turner SyndromeSpastic Paraplegia, HereditaryJob SyndromeEye ProteinsHearing Loss, SensorineuralAmino Acid SubstitutionNails, MalformedGuanineEctodermal DysplasiaMicrosatellite RepeatsDNA-(Apurinic or Apyrimidinic Site) LyaseCystsMyelodysplastic SyndromesCase-Control StudiesChromosomes, Human, Pair 16SyndactylyChromosomes, Human, Pair 19Codon, NonsenseCushing Syndromegamma-CrystallinsPolymorphism, Single-Stranded ConformationalLong QT SyndromeChromosomes, Human, Pair 1Polycystic Ovary Syndromebeta-Crystallin A ChainAcute Coronary SyndromeDNA RepairPolymorphism, Restriction Fragment LengthElectroretinographyWilliams SyndromeKeratoderma, PalmoplantarSpinocerebellar AtaxiasDNAAmino Acid SequenceChromosomes, Human, Pair 4Alagille Syndrome