Defect genetic diseases inborn. Medical search. Frequent questions

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Anatomy17

Cell Line Chromosomes, Human Cells, Cultured Fibroblasts Cilia X Chromosome HeLa Cells Fetus Liver Chromosomes, Human, Pair 16 Spermatozoa Muscle, Skeletal Stem Cells Induced Pluripotent Stem Cells Cell Nucleus Surgical Flaps Telomere

Organisms10

Mice, Knockout Mice, Transgenic Mice, Inbred C57BL Dependovirus Mice, Mutant Strains Zebrafish Saccharomyces cerevisiae Mice, Inbred CFTR Dogs Cricetinae

Diseases52

Genetic Diseases, Inborn Genetic Diseases, Y-Linked Rare Diseases Cystic Fibrosis Heart Septal Defects, Ventricular Genetic Diseases, X-Linked Disease Heart Defects, Congenital Metabolism, Inborn Errors Heart Septal Defects, Atrial Disease Models, Animal Genetic Predisposition to Disease Congenital Abnormalities Sphingolipidoses Fanconi Anemia Syndrome Heart Septal Defects Chromosome Disorders Abnormalities, Multiple Tay-Sachs Disease Muscular Dystrophy, Duchenne Tuberous Sclerosis Mitochondrial Diseases Dysautonomia, Familial Homocystinuria Chromosome Aberrations Lipid Metabolism Disorders Hemochromatosis Hemophilia B beta-Thalassemia Muscular Dystrophies Phenylketonurias alpha 1-Antitrypsin Deficiency Kartagener Syndrome Polycystic Kidney Diseases Mucopolysaccharidosis I Ataxia Telangiectasia Kallmann Syndrome Muscular Atrophy, Spinal Neoplasms Hemophilia A Polycystic Kidney, Autosomal Dominant Intellectual Disability Down Syndrome Myotonic Dystrophy Huntington Disease Genomic Instability Retinitis Pigmentosa Hematologic Diseases Endocardial Cushion Defects Thalassemia Anemia, Sickle Cell

Chemicals and Drugs42

Cystic Fibrosis Transmembrane Conductance Regulator Codon, Nonsense DNA Genetic Markers Membrane Proteins Factor IX Dystrophin DNA-Binding Proteins Proteins RNA, Messenger Steroid 21-Hydroxylase DNA Primers Transcription Factors TRPP Cation Channels Codon, Terminator Ethylnitrosourea Survival of Motor Neuron 1 Protein Nuclear Proteins Neurofibromin 1 Fanconi Anemia Complementation Group Proteins Cystathionine beta-Synthase RNA Splice Sites Carrier Proteins Tumor Suppressor Proteins alpha 1-Antitrypsin DNA, Mitochondrial Globins Aminoglycosides Phenylalanine Hydroxylase Oligonucleotide Probes Green Fluorescent Proteins Mutant Proteins DNA, Complementary Oligonucleotides Repressor Proteins RNA Protein-Serine-Threonine Kinases Saccharomyces cerevisiae Proteins Recombinant Proteins Adenosine Triphosphatases Chloride Channels RNA-Binding Proteins

Analytical, Diagnostic and Therapeutic Techniques and Equipment38

Genetic Testing Models, Genetic Genetic Therapy Pedigree Chromosome Mapping Prenatal Diagnosis Disease Models, Animal DNA Mutational Analysis Polymerase Chain Reaction Targeted Gene Repair Genetic Techniques Heterozygote Detection Gene Targeting Gene Transfer Techniques Preimplantation Diagnosis Models, Biological Sequence Analysis, DNA Cloning, Molecular Amino Acid Substitution Sequence Alignment Karyotyping Oligonucleotide Array Sequence Analysis Genetic Association Studies Transfection Gene Expression Profiling Mutagenesis, Insertional Models, Animal Reverse Transcriptase Polymerase Chain Reaction In Situ Hybridization, Fluorescence Blotting, Southern Models, Molecular Genetic Complementation Test Genome-Wide Association Study Transduction, Genetic Models, Statistical Reproducibility of Results Surgical Flaps Blotting, Western

Psychiatry and Psychology3

Intellectual Disability Huntington Disease Family

Phenomena and Processes88

Mutation Phenotype Genome, Human Base Sequence Codon, Nonsense Alleles Genes, Recessive Genetic Predisposition to Disease Genotype Nonsense Mediated mRNA Decay Heterozygote Exons Genetic Vectors Mutation, Missense Amino Acid Sequence Pregnancy Genetic Linkage Point Mutation Gene Deletion Homozygote Polymorphism, Single Nucleotide Genetic Markers Trinucleotide Repeats Chromosome Aberrations Signal Transduction Genes, Dominant Genetic Variation Exome Haploinsufficiency Chromosomes, Human Consanguinity DNA Repair Penetrance Gene Expression Gene Expression Regulation, Developmental Recombination, Genetic Gene Frequency Alu Elements Sequence Deletion Genome Gene Expression Regulation RNA Splicing Codon, Terminator Protein Structure, Tertiary Founder Effect Trinucleotide Repeat Expansion Introns Mutagenesis Inheritance Patterns Transgenes Amino Acid Substitution RNA Splice Sites Algorithms Protein Binding X Chromosome Evolution, Molecular Cell Differentiation Haplotypes DNA Damage Protein Transport Genes Genomic Instability Mutation Rate Transfection Mosaicism Polymorphism, Genetic Sequence Homology, Amino Acid Time Factors Alternative Splicing Mutagenesis, Insertional Germ-Line Mutation Gene Dosage Bone Regeneration Chromosomes, Human, Pair 16 Polymorphism, Restriction Fragment Length Multigene Family Plasmids Protein Interaction Maps Promoter Regions, Genetic RNA Interference Repetitive Sequences, Nucleic Acid DNA Replication Transduction, Genetic Gene Duplication Telomere Microsatellite Repeats Nucleic Acid Conformation Protein Folding

Disciplines and Occupations7

Genetics, Medical Genetic Counseling Molecular Biology Human Genome Project Computational Biology Genomics Genetics, Population

Anthropology, Education, Sociology and Social Phenomena1

Humanities3

Eugenics Judaism Ethics, Medical

Information Science10

Molecular Sequence Data Base Sequence Probability Theory Human Genome Project Amino Acid Sequence Databases, Genetic Software Algorithms Internet Databases, Nucleic Acid

Named Groups2

Infant, Newborn Jews

Health Care8

Genetic Testing Genetic Counseling Ethics, Medical Genome-Wide Association Study Family Health Models, Statistical Reproducibility of Results Age of Onset

Anatomy Organisms Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Psychiatry and Psychology Phenomena and Processes Disciplines and Occupations Humanities Information Science Named Groups Health Care

Genetic Diseases, Inborn Mutation Eugenics Genetics, Medical Genetic Diseases, Y-Linked Phenotype Rare Diseases Molecular Sequence Data Genome, Human Cystic Fibrosis Heart Septal Defects, Ventricular Genetic Diseases, X-Linked Genetic Testing Cystic Fibrosis Transmembrane Conductance Regulator Base Sequence Disease Genetic Counseling Heart Defects, Congenital Models, Genetic Genetic Therapy Metabolism, Inborn Errors Heart Septal Defects, Atrial Codon, Nonsense Pedigree Chromosome Mapping Alleles Judaism Prenatal Diagnosis Disease Models, Animal Genes, Recessive Genetic Predisposition to Disease Congenital Abnormalities DNA Mutational Analysis Genotype DNA Probability Theory Molecular Biology Human Genome Project Polymerase Chain Reaction Sphingolipidoses Nonsense Mediated mRNA Decay Heterozygote Fanconi Anemia Targeted Gene Repair Syndrome Exons Mice, Knockout Genetic Vectors Heart Septal Defects Mutation, Missense Amino Acid Sequence Genetic Techniques Chromosome Disorders Pregnancy Genetic Linkage Point Mutation Abnormalities, Multiple Heterozygote Detection Gene Targeting Gene Deletion Homozygote Gene Transfer Techniques Cell Line Tay-Sachs Disease Preimplantation Diagnosis Polymorphism, Single Nucleotide Muscular Dystrophy, Duchenne Models, Biological Genetic Markers Tuberous Sclerosis Membrane Proteins Mitochondrial Diseases Trinucleotide Repeats Dysautonomia, Familial Factor IX Homocystinuria Chromosome Aberrations Signal Transduction Genes, Dominant Genetic Variation Exome Lipid Metabolism Disorders Hemochromatosis Haploinsufficiency Hemophilia B Chromosomes, Human Dystrophin Mice, Transgenic Sequence Analysis, DNA Consanguinity beta-Thalassemia Mice, Inbred C57BL Dependovirus Infant, Newborn DNA-Binding Proteins DNA Repair Mice, Mutant Strains Penetrance Muscular Dystrophies Phenylketonurias

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