Werner SyndromeRecQ HelicasesExodeoxyribonucleasesGenes, RecessiveSyndromeDNA HelicasesConsanguinityPedigreeMutationBloom SyndromeHomozygoteAbnormalities, MultiplePhenotypeExonucleasesDNA Mutational AnalysisRothmund-Thomson SyndromeAging, Premature4-Nitroquinoline-1-oxideMolecular Sequence DataAlbinism, OculocutaneousMutation, MissenseProgeriaHeterozygoteBase SequenceDNAHermanski-Pudlak SyndromeChromosome MappingCystinosisGenetic LinkageLipoid Proteinosis of Urbach and WietheMicrocephalyAdenosine TriphosphatasesDNA DamageLod ScoreBardet-Biedl SyndromeExonsFibroblastsDwarfismIntellectual DisabilityTelomereHeterozygote DetectionMetabolism, Inborn ErrorsOsteochondrodysplasiasAmino Acid SequenceCodon, NonsenseDNA RepairFrameshift MutationDNA ReplicationPolycystic Kidney, Autosomal RecessiveHaplotypesAmino Acid Metabolism, Inborn ErrorsPapillon-Lefevre DiseaseFounder EffectAllelesSurvival of Motor Neuron 1 ProteinDNA-Binding ProteinsChromosomes, Human, Pair 8Retinitis PigmentosaHearing Loss, SensorineuralGenetic HeterogeneityHypotrichosisUsher SyndromesGenotypeFanconi AnemiaAtaxia TelangiectasiaChediak-Higashi SyndromeGenetic TestingHeLa CellsReplication Protein AMuscular Atrophy, SpinalTelomeric Repeat Binding Protein 2AfibrinogenemiaHepatolenticular DegenerationNails, MalformedPolymorphism, Single-Stranded ConformationalUrea Cycle Disorders, InbornInfant, NewbornCell LineGenetic MarkersProtein Structure, TertiaryFamily HealthFaciesIchthyosis, LamellarEllis-Van Creveld SyndromeLipid Metabolism, Inborn ErrorsPoint MutationSpinal Muscular Atrophies of ChildhoodPorphyria, ErythropoieticCraniofacial AbnormalitiesProtein BindingHypopigmentationAnemia, MegaloblasticSMN Complex ProteinsBipolar DisorderChromosomes, Human, Pair 1Recombination, GeneticGenetic Diseases, InbornProton-Coupled Folate TransporterCells, CulturedHair Diseases