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European Journal of Haematology, ISSN 0902-4441, 11/2014, Volume 93, Issue 5, pp. 422 - 428
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 09/2007, Volume 44, Issue 9, pp. 562 - 569
Background: Kabuki syndrome (KS) is a rare, clinically recognisable, congenital mental retardation syndrome. The aetiology of KS remains unknown. Methods: Four... 
8P22-8P23.1 DUPLICATION | RUBINSTEIN-TAYBI-SYNDROME | BAC-FISH | ARRAY-CGH | CHARGE SYNDROME | GENETICS & HEREDITY | CAUSE NOONAN-SYNDROME | ECTODERMAL ABNORMALITIES | MAKE-UP-SYNDROME | NIIKAWA-KUROKI SYNDROME | AUTOSOMAL-DOMINANT INHERITANCE | Sequence Deletion | Face - abnormalities | Humans | Transcription Factors - deficiency | Molecular Sequence Data | Intellectual Disability - genetics | Chromosomes, Human, Pair 20 - ultrastructure | Gene Expression Regulation, Developmental | Female | Chromosomes, Human, Pair 20 - chemistry | Abnormalities, Multiple - genetics | Infant, Newborn | Amino Acid Sequence | Nucleic Acid Hybridization | Transcription Factors - physiology | Membrane Proteins - genetics | Exons - genetics | Transcription Factors - genetics | DNA Repair Enzymes | Organ Specificity | Syndrome | Sequence Homology, Amino Acid | Phenotype | Sequence Alignment | Animals | Hydrolases | Mice | Chromosomes, Human, Pair 20 - genetics | Usage | Genetic disorders | Gene mutations | Nucleic acid hybridization | Development and progression | Genetic aspects | Research | Child psychopathology | Proteins | Genotype & phenotype | Intellectual disabilities | Genes | Cloning | Zebrafish | Mutation | Artificial chromosomes | Patients | Index Medicus | C20orf133 | Kabuki syndrome | array CGH | FLRT3 | Original | microdeletion
Journal Article
Nucleic Acids Research, ISSN 0305-1048, 2004, Volume 32, Issue 16, pp. 4812 - 4820
Journal Article
Genes Chromosomes and Cancer, ISSN 1045-2257, 04/1999, Volume 24, Issue 4, pp. 299 - 305
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 07/2014, Volume 124, Issue 7, pp. 3137 - 3146
Numerous human disorders, including Cockayne syndrome, UV-sensitive syndrome, xeroderrna pigmentosum, and trichothiodystrophy, result from the mutation of... 
UV-IRRADIATION | MEDICINE, RESEARCH & EXPERIMENTAL | MUTANT MICE | RNA-SYNTHESIS | NUCLEOTIDE-EXCISION-REPAIR | XERODERMA-PIGMENTOSUM | GENE | REPLICATION FORK | COCKAYNE-SYNDROME | CANCER | XPG | Humans | Nerve Degeneration - genetics | Male | Aging, Premature - genetics | Mutation, Missense | DNA Repair-Deficiency Disorders - physiopathology | Proliferating Cell Nuclear Antigen - genetics | DNA Mutational Analysis | Protein Structure, Quaternary | Adult | Female | Child | DNA Repair-Deficiency Disorders - pathology | Recombinant Proteins - metabolism | Telangiectasis - genetics | Photosensitivity Disorders - genetics | Mutant Proteins - genetics | Models, Molecular | Recombinant Proteins - chemistry | Mutant Proteins - metabolism | Recombinant Proteins - genetics | Proliferating Cell Nuclear Antigen - chemistry | Syndrome | Hearing Loss - genetics | Dwarfism - genetics | Homozygote | Phenotype | Pedigree | Mutant Proteins - chemistry | Adolescent | Proliferating Cell Nuclear Antigen - metabolism | DNA Repair-Deficiency Disorders - genetics | Amino Acid Substitution | Chromosomes, Human, Pair 20 - genetics | Gene mutations | Genetic research | Nervous system | Degeneration | Genetic aspects | Research | Identification and classification | DNA repair | Medical research | Mutation | DNA damage | Index Medicus | Abridged Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 02/2015, Volume 10, Issue 2, pp. e0118307 - e0118307
The self-renewal and differentiation capacities of human pluripotent stem cells ( hPSCs) make them a promising source of material for cell transplantation... 
BCL-XL | MULTIDISCIPLINARY SCIENCES | COPY NUMBER | PLURIPOTENCY | MUTATIONS | 20Q11.21 | EXPRESSION | LINES | GAIN | Genomic Instability | Chromosome Duplication | Epigenesis, Genetic | Human Embryonic Stem Cells - cytology | Humans | Gene Expression Profiling | Tumor Suppressor Protein p53 - genetics | Cell Self Renewal | DNA Methylation | Time Factors | Cell Transformation, Neoplastic - genetics | Cell Differentiation | Cell Culture Techniques | Chromosomes, Human, Pair 20 | Chromosome Deletion | Cell Line | Human Embryonic Stem Cells - metabolism | Cells, Cultured | Human Embryonic Stem Cells - pathology | Pluripotent Stem Cells - metabolism | Phenotype | Chromosomes, Human, Pair 17 | Chromosome Aberrations | Polymorphism, Single Nucleotide | Chromosomes, Human, Pair 12 | Genome, Human | Epigenetic inheritance | Enzymes | RNA | Stem cells | Transplantation | Tumor proteins | Methylation | Gene expression | Cell differentiation | Embryonic stem cells | Reproductive health | Cell proliferation | Cell culture | Health sciences | Oct-4 protein | p53 Protein | Embryo cells | Differentiation (biology) | Stem cell transplantation | Genomes | Biochemistry | Drug development | Genomic instability | Alterations | DNA methylation | Physiology | Chief executive officers | Bioinformatics | Deoxyribonucleic acid--DNA | Stability | Mechanical properties | Cultures | Embryo fibroblasts | Embryos | Substrates | Medicine | Algorithms | Epigenetics | Tumor suppressor genes | Mutation | Molecular biology | Pluripotency | Combinatorial analysis | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article
Journal Article