Genetic Diseases, InbornMutationEugenicsGenetics, MedicalGenetic Diseases, Y-LinkedY ChromosomeRare DiseasesReceptors, Purinergic P2Y1Genome, HumanDiseaseCystic FibrosisGenetic TestingCystic Fibrosis Transmembrane Conductance RegulatorGenetic CounselingGenetic Diseases, X-LinkedGenetic TherapyPhenotypeJudaismModels, GeneticCodon, NonsenseMetabolism, Inborn ErrorsBase SequencePrenatal DiagnosisMolecular Sequence DataChromosome MappingGenetic Predisposition to DiseasePedigreeGenes, RecessiveProbability TheoryAllelesHuman Genome ProjectNonsense Mediated mRNA DecayMolecular BiologyDisease Models, AnimalSphingolipidosesTargeted Gene RepairDNA Mutational AnalysisDNAGenotypeFanconi AnemiaGenetic TechniquesPolymerase Chain ReactionGenetic VectorsPreimplantation DiagnosisGene Transfer TechniquesChromosome DisordersTay-Sachs DiseasePolymorphism, Single NucleotideHeterozygote DetectionExonsGenetic LinkageTuberous SclerosisMuscular Dystrophy, DuchenneTrinucleotide RepeatsGenetic MarkersFactor IXMutation, MissenseHeterozygoteDysautonomia, FamilialLipid Metabolism DisordersPoint MutationGenetic VariationHemochromatosisHomocystinuriaChromosomes, HumanHemophilia Bbeta-ThalassemiaExomeDependovirusPhenylketonuriasDatabases, GeneticCell LineSyndromeDystrophinalpha 1-Antitrypsin DeficiencyChromosome AberrationsPenetranceSteroid 21-HydroxylaseGene FrequencyGene TargetingSequence Analysis, DNAComputational BiologyMuscular DystrophiesHaploinsufficiencyAlu ElementsModels, BiologicalMucopolysaccharidosis IHomozygoteGenes, DominantMitochondrial DiseasesPregnancyPolycystic Kidney DiseasesGenomeCongenital AbnormalitiesKallmann SyndromeMice, Inbred CFTRPolycystic Kidney, Autosomal DominantConsanguinityFounder EffectTRPP Cation Channels