Werner SyndromeRecQ HelicasesExodeoxyribonucleasesGenes, RecessiveConsanguinitySyndromePedigreeDNA HelicasesMutationHomozygoteBloom SyndromeDNA Mutational AnalysisAbnormalities, MultiplePhenotypeMutation, MissensePolycystic Kidney, Autosomal RecessiveRothmund-Thomson SyndromeMolecular Sequence DataAlbinism, OculocutaneousExonucleasesHeterozygoteAging, PrematureGenetic LinkageChromosome Mapping4-Nitroquinoline-1-oxideMicrocephalyLod ScoreBase SequenceRetinitis PigmentosaExonsDNACystinosisCodon, NonsenseIntellectual DisabilityProgeriaDwarfismHermanski-Pudlak SyndromeFrameshift MutationHeterozygote DetectionLipoid Proteinosis of Urbach and WietheOsteochondrodysplasiasHaplotypesHypotrichosisBardet-Biedl SyndromeMetabolism, Inborn ErrorsAmino Acid SequenceFounder EffectAllelesAdenosine TriphosphatasesFibroblastsHearing Loss, SensorineuralDNA DamageGenetic HeterogeneityAmino Acid Metabolism, Inborn ErrorsGenotypeSurvival of Motor Neuron 1 ProteinPapillon-Lefevre DiseaseIchthyosis, LamellarTelomereGenetic TestingNails, MalformedPolymorphism, Single-Stranded ConformationalGenetic MarkersDNA RepairMuscular Atrophy, SpinalFanconi AnemiaFamily HealthUsher SyndromesDNA ReplicationChromosomes, Human, Pair 8Ataxia TelangiectasiaPakistanIchthyosisDeafnessInfant, NewbornPoint MutationMuscular DystrophiesSpinal Muscular Atrophies of ChildhoodDNA-Binding ProteinsFaciesChediak-Higashi SyndromeMicrosatellite RepeatsChromosomes, Human, Pair 1Hepatolenticular DegenerationAfibrinogenemiaUrea Cycle Disorders, InbornEllis-Van Creveld SyndromeCraniofacial AbnormalitiesSMN Complex ProteinsLipid Metabolism, Inborn ErrorsHair DiseasesPorphyria, ErythropoieticHeLa CellsGenetic Diseases, InbornGenes, DominantCell LineChromosomes, Human, Pair 2Protein Structure, TertiaryPolymerase Chain ReactionChromosome Disorders