Microtubule ProteinsSmith-Lemli-Opitz SyndromeHypertelorismSyndromeHypospadiasNuclear ProteinsTranscription FactorsPoint MutationMutation, MissenseAnus, ImperforateAbnormalities, MultipleGenetic Diseases, X-LinkedMutationDown SyndromeMetabolic Syndrome XFrameshift MutationPedigreeNephrotic SyndromeGerm-Line MutationSjogren's SyndromeMolecular Sequence DataTurner SyndromeBase SequenceMyelodysplastic SyndromesDNA Mutational AnalysisHeterozygoteCushing SyndromeExonsAmino Acid SequencePhenotypePolycystic Ovary SyndromeLong QT SyndromeAcute Coronary SyndromePolymerase Chain ReactionMutation RateWilliams SyndromeMicrotubulesDiGeorge SyndromeAmino Acid SubstitutionAllelesPrader-Willi SyndromeHorner SyndromeGenotypeHemolytic-Uremic SyndromeGuillain-Barre SyndromeHomozygoteGenes, RecessiveSequence Analysis, DNAPolymorphism, Single-Stranded ConformationalCompartment SyndromesTourette SyndromeCodon, NonsenseAntiphospholipid SyndromePorcine Reproductive and Respiratory SyndromeWerner SyndromeMutagenesis, Site-DirectedKlinefelter SyndromeGenetic TestingEhlers-Danlos SyndromeBrugada SyndromeCarpal Tunnel SyndromeReye SyndromeBartter SyndromeHELLP SyndromeBloom SyndromePorcine respiratory and reproductive syndrome virusIntellectual DisabilityGenes, DominantCell LineChromosome MappingAngelman SyndromeConsanguinitySequence DeletionMutagenesisRespiratory Distress Syndrome, AdultWiskott-Aldrich SyndromeDNA PrimersFaciesEscherichia coliSevere Acute Respiratory SyndromeGenetic Predisposition to DiseaseDNA-Binding ProteinsGenetic LinkageRestless Legs SyndromeGene DeletionProtein Structure, TertiaryJob SyndromeSequence Homology, Amino AcidDNAParaneoplastic SyndromesKallmann SyndromeBinding SitesSweet SyndromeTime FactorsInfant, NewbornEye AbnormalitiesAcquired Immunodeficiency SyndromeCraniofacial AbnormalitiesUsher SyndromesCloning, Molecular