Werner SyndromeRecQ HelicasesExodeoxyribonucleasesGenes, RecessiveSyndromeDNA HelicasesConsanguinityPedigreeMutationBloom SyndromeHomozygoteAbnormalities, MultipleExonucleasesDNA Mutational AnalysisRothmund-Thomson SyndromeAging, PrematurePhenotype4-Nitroquinoline-1-oxideAlbinism, OculocutaneousMutation, MissenseMolecular Sequence DataProgeriaDNAHeterozygoteBase SequenceCystinosisHermanski-Pudlak SyndromeChromosome MappingGenetic LinkageLipoid Proteinosis of Urbach and WietheMicrocephalyAdenosine TriphosphatasesDNA DamageLod ScoreBardet-Biedl SyndromeExonsIntellectual DisabilityDwarfismFibroblastsTelomereHeterozygote DetectionOsteochondrodysplasiasMetabolism, Inborn ErrorsCodon, NonsenseFrameshift MutationDNA ReplicationDNA RepairPolycystic Kidney, Autosomal RecessiveAmino Acid SequencePapillon-Lefevre DiseaseHaplotypesAmino Acid Metabolism, Inborn ErrorsFounder EffectSurvival of Motor Neuron 1 ProteinChromosomes, Human, Pair 8Retinitis PigmentosaHearing Loss, SensorineuralGenetic HeterogeneityAllelesHypotrichosisUsher SyndromesDNA-Binding ProteinsGenotypeFanconi AnemiaAtaxia TelangiectasiaChediak-Higashi SyndromeGenetic TestingReplication Protein ATelomeric Repeat Binding Protein 2HeLa CellsMuscular Atrophy, SpinalAfibrinogenemiaHepatolenticular DegenerationUrea Cycle Disorders, InbornNails, MalformedPolymorphism, Single-Stranded ConformationalGenetic MarkersIchthyosis, LamellarFamily HealthCell LineFaciesEllis-Van Creveld SyndromeInfant, NewbornSpinal Muscular Atrophies of ChildhoodPorphyria, ErythropoieticProtein Structure, TertiaryLipid Metabolism, Inborn ErrorsPoint MutationProtein BindingAnemia, MegaloblasticHypopigmentationBipolar DisorderSMN Complex ProteinsCraniofacial AbnormalitiesProton-Coupled Folate TransporterChromosomes, Human, Pair 1Genetic Diseases, InbornHair DiseasesMicrosatellite RepeatsLipodystrophy, Congenital Generalized