Werner SyndromeRecQ HelicasesExodeoxyribonucleasesGenes, RecessiveSyndromeDNA HelicasesConsanguinityPedigreeMutationBloom SyndromeAbnormalities, MultipleHomozygoteDNA Mutational AnalysisPhenotypeExonucleasesRothmund-Thomson SyndromeAging, Premature4-Nitroquinoline-1-oxideAlbinism, OculocutaneousMutation, MissenseMolecular Sequence DataProgeriaHeterozygoteDNABase SequenceChromosome MappingHermanski-Pudlak SyndromeCystinosisGenetic LinkageMicrocephalyLipoid Proteinosis of Urbach and WietheAdenosine TriphosphatasesDNA DamageLod ScoreBardet-Biedl SyndromeIntellectual DisabilityExonsDwarfismFibroblastsTelomereHeterozygote DetectionOsteochondrodysplasiasMetabolism, Inborn ErrorsCodon, NonsenseFrameshift MutationDNA RepairDNA ReplicationAmino Acid SequencePolycystic Kidney, Autosomal RecessiveHaplotypesAmino Acid Metabolism, Inborn ErrorsPapillon-Lefevre DiseaseChromosomes, Human, Pair 8Founder EffectRetinitis PigmentosaSurvival of Motor Neuron 1 ProteinAllelesHearing Loss, SensorineuralGenetic HeterogeneityDNA-Binding ProteinsHypotrichosisUsher SyndromesGenotypeGenetic TestingFanconi AnemiaChediak-Higashi SyndromeAtaxia TelangiectasiaHeLa CellsInfant, NewbornNails, MalformedReplication Protein AHepatolenticular DegenerationTelomeric Repeat Binding Protein 2Muscular Atrophy, SpinalAfibrinogenemiaPolymorphism, Single-Stranded ConformationalUrea Cycle Disorders, InbornCraniofacial AbnormalitiesGenetic MarkersFaciesCell LineFamily HealthIchthyosis, LamellarEllis-Van Creveld SyndromeSpinal Muscular Atrophies of ChildhoodProtein Structure, TertiaryLipid Metabolism, Inborn ErrorsPorphyria, ErythropoieticPoint MutationChromosome DisordersAnemia, MegaloblasticBipolar DisorderProtein BindingHypopigmentationChromosomes, Human, Pair 1SMN Complex ProteinsHair DiseasesGenetic Diseases, InbornProton-Coupled Folate TransporterMicrosatellite Repeats