Rare metabolic genetic diseases. Medical search. Frequent questions

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Anatomy15

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

Organisms12

Dependovirus Mice, Inbred CFTR Mice, Knockout Mice, Transgenic Dogs Mice, Inbred C57BL Zebrafish Mice, Mutant Strains Lentivirus Retroviridae Adenoviridae Cricetinae

Diseases48

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

Chemicals and Drugs41

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

Analytical, Diagnostic and Therapeutic Techniques and Equipment38

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

Psychiatry and Psychology3

Huntington Disease Intellectual Disability Family

Phenomena and Processes89

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

Disciplines and Occupations8

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

Anthropology, Education, Sociology and Social Phenomena1

Humanities3

Eugenics Judaism Ethics, Medical

Information Science14

Base Sequence Probability Theory Human Genome Project Molecular Sequence Data Databases, Genetic Software Algorithms Amino Acid Sequence Databases, Nucleic Acid Internet Information Storage and Retrieval User-Computer Interface Computer Simulation Databases, Factual

Named Groups2

Jews Infant, Newborn

Health Care8

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

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

Genetic Diseases, Inborn Mutation Eugenics Genetics, Medical Genetic Diseases, Y-Linked Rare Diseases Genome, Human Disease Cystic Fibrosis Genetic Testing Cystic Fibrosis Transmembrane Conductance Regulator Genetic Counseling Genetic Diseases, X-Linked Phenotype Genetic Therapy Judaism Models, Genetic Codon, Nonsense Metabolism, Inborn Errors Prenatal Diagnosis Chromosome Mapping Base Sequence Genetic Predisposition to Disease Genes, Recessive Pedigree Probability Theory Human Genome Project Nonsense Mediated mRNA Decay Alleles Molecular Sequence Data Molecular Biology Sphingolipidoses Targeted Gene Repair Disease Models, Animal Genotype DNA Mutational Analysis Fanconi Anemia DNA Genetic Techniques Genetic Vectors Polymerase Chain Reaction Preimplantation Diagnosis Gene Transfer Techniques Chromosome Disorders Tay-Sachs Disease Heterozygote Detection Polymorphism, Single Nucleotide Exons Tuberous Sclerosis Genetic Linkage Muscular Dystrophy, Duchenne Trinucleotide Repeats Factor IX Heterozygote Dysautonomia, Familial Lipid Metabolism Disorders Genetic Markers Hemochromatosis Homocystinuria Hemophilia B beta-Thalassemia Chromosomes, Human Exome Dependovirus Databases, Genetic Genetic Variation Phenylketonurias Mutation, Missense Point Mutation Syndrome Dystrophin alpha 1-Antitrypsin Deficiency Chromosome Aberrations Penetrance Steroid 21-Hydroxylase Muscular Dystrophies Gene Targeting Haploinsufficiency Computational Biology Alu Elements Gene Frequency Cell Line Mucopolysaccharidosis I Mitochondrial Diseases Polycystic Kidney Diseases Sequence Analysis, DNA Genes, Dominant Models, Biological Homozygote Genome Congenital Abnormalities Pregnancy Kallmann Syndrome Mice, Inbred CFTR Polycystic Kidney, Autosomal Dominant Consanguinity TRPP Cation Channels Hemophilia A Codon, Terminator Kartagener Syndrome

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