Gene DosageSyndromeBloom SyndromeWerner SyndromeRecQ HelicasesBardet-Biedl SyndromeDown SyndromeMicrotubule ProteinsMutationAbnormalities, MultipleDNA HelicasesKallmann SyndromeMandibulofacial DysostosisDosage Compensation, GeneticPhenotypeHomozygoteSmith-Lemli-Opitz SyndromePeutz-Jeghers SyndromeChediak-Higashi SyndromeDwarfismMetabolic Syndrome XExodeoxyribonucleasesHeterozygoteChromosome MappingMolecular Sequence DataAdenosine TriphosphatasesPedigreeGroup II ChaperoninsWolfram SyndromeHermanski-Pudlak SyndromeBase SequenceAllelesNuclear ProteinsDNA Mutational AnalysisNephrotic SyndromeGenotypeSjogren's SyndromeProteinsConsanguinityGenes, RecessiveGoiterDosage FormsAmino Acid SequenceDiGeorge SyndromeExonsTurner SyndromeSequence DeletionRNA, MessengerGene DuplicationTrisomyX Chromosome InactivationGenetic LinkageFrameshift MutationTranscription FactorsPolymerase Chain ReactionDNA-Binding ProteinsX ChromosomeDNA Topoisomerases, Type IGene Expression RegulationMyelodysplastic SyndromesChromosomes, Human, Pair 21Cloning, MolecularDNACarrier ProteinsCushing SyndromeHaploinsufficiencyMutation, MissenseGene DeletionMembrane ProteinsAcute Coronary SyndromePolycystic Ovary SyndromeEye AbnormalitiesRecombination, GeneticWilliams SyndromeAneuploidyMice, TransgenicSequence Analysis, DNAHorner SyndromePrader-Willi SyndromeIn Situ Hybridization, FluorescenceLong QT SyndromePromoter Regions, GeneticCell LineMice, Inbred C57BLSequence Homology, Amino AcidMicrosatellite RepeatsGuillain-Barre SyndromeGenesGenes, FungalHemolytic-Uremic SyndromeSaccharomyces cerevisiaeCompartment SyndromesTourette SyndromePlasmidsAntiphospholipid SyndromeGenes, X-LinkedMice, Mutant StrainsDisease Models, AnimalPorcine Reproductive and Respiratory SyndromeMice, Knockout