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Genes & genetic systems, ISSN 1341-7568, 2016, Volume 91, Issue 6, pp. 319 - 319
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The Y-family DNA polymerase κ (pol κ) functions in mammalian nucleotide-excision repair
Nature cell biology, ISSN 1465-7392, 06/2006, Volume 8, Issue 6, pp. 640 - 642
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Nucleic acids research, ISSN 0305-1048, 12/2017, Volume 45, Issue 22, pp. 13043 - 13055
Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Amino Acid Sequence | Humans | Models, Molecular | Transcription Factor TFIIH - chemistry | Binding Sites - genetics | DNA - metabolism | DNA-Binding Proteins - genetics | DNA-Binding Proteins - chemistry | Transcription Factor TFIIH - genetics | DNA - genetics | DNA-Binding Proteins - metabolism | Sequence Homology, Amino Acid | Carrier Proteins - genetics | Carrier Proteins - metabolism | DNA Repair | HEK293 Cells | Transcription Factor TFIIH - metabolism | Protein Binding | Protein Domains | Carrier Proteins - chemistry | DNA Damage | Mutation | Index Medicus | Structural Biology
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Journal of investigative dermatology, 11/2020
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Journal of investigative dermatology, ISSN 0022-202X, 06/2012, Volume 132, Issue 6, pp. 1597 - 1604
Life Sciences & Biomedicine | Dermatology | Science & Technology | Biological and medical sciences | Medical sciences | Skin involvement in other diseases. Miscellaneous. General aspects | Fibroblasts - physiology | Humans | Middle Aged | Male | MicroRNAs - metabolism | Promoter Regions, Genetic - genetics | Luciferases - genetics | Young Adult | Collagen Type I - genetics | Aged, 80 and over | Adult | Female | DNA Methylation - physiology | Dermis - cytology | Real-Time Polymerase Chain Reaction | Keloid - pathology | Collagen Type III - genetics | Down-Regulation - genetics | Keloid - physiopathology | Keloid - genetics | Adolescent | CpG Islands - genetics | Aged | Fibroblasts - cytology | MicroRNAs - genetics | Primary Cell Culture | Index Medicus
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The Journal of clinical investigation, ISSN 0021-9738, 07/2013, Volume 123, Issue 7, pp. 2969 - 2980
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Microcephaly - genetics | Humans | Child, Preschool | Molecular Sequence Data | Male | Brain - abnormalities | Microcephaly - enzymology | Mutation, Missense | Molecular Diagnostic Techniques | DNA Mutational Analysis | Base Sequence | DNA-Activated Protein Kinase - genetics | Fatal Outcome | Conserved Sequence | Nuclear Proteins - genetics | Abnormalities, Multiple - genetics | Amino Acid Sequence | Cell Line | Severe Combined Immunodeficiency - enzymology | Genetic Association Studies | Severe Combined Immunodeficiency - diagnosis | Microcephaly - diagnosis | Point Mutation | Severe Combined Immunodeficiency - genetics | Abnormalities, Multiple - diagnosis | DNA Repair | Abnormalities, Multiple - enzymology | Physiological aspects | Research | Gene mutations | Neurogenetics | Protein kinases | Health aspects | Medical research | Mutation | Kinases | DNA repair | Genes | Index Medicus | Abridged Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 05/2013, Volume 92, Issue 5, pp. 807 - 819
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Amino Acid Sequence | Endonucleases - genetics | Genetic Predisposition to Disease - genetics | Xeroderma Pigmentosum - genetics | Humans | Molecular Sequence Data | Male | DNA Primers - genetics | DNA-Binding Proteins - genetics | Sequence Analysis, DNA | Cockayne Syndrome - enzymology | Cockayne Syndrome - pathology | Phenotype | Xeroderma Pigmentosum - pathology | Xeroderma Pigmentosum - enzymology | Fanconi Anemia - enzymology | Base Sequence | Cockayne Syndrome - genetics | Fatal Outcome | Fanconi Anemia - pathology | Female | Fanconi Anemia - genetics | Physiological aspects | Genetic research | Genetic aspects | Research | Gene mutations | Anemia | Genotype & phenotype | Genetic disorders | Mutation | DNA repair | Genes | Index Medicus | Report
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Journal of allergy and clinical immunology, ISSN 0091-6749, 2015, Volume 136, Issue 4, pp. 1007 - 1017
Allergy and Immunology | microcephaly | DNA double-strand break repair | immunodeficiency | double-strand break repair deficiency | nonhomologous end-joining | XRCC4/LIG4 | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Ataxia - immunology | Protein Binding - genetics | Microcephaly - genetics | Humans | Radiation Tolerance - genetics | DNA Repair - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | DNA Ligases - metabolism | V(D)J Recombination - genetics | Young Adult | Microcephaly - immunology | DNA Mutational Analysis | HEK293 Cells | DNA Ligase ATP | Immunologic Deficiency Syndromes - genetics | Female | Protein Stability | Ataxia - genetics | Immunologic Deficiency Syndromes - immunology | Hospitals | Ligases | Analysis | Genomics | Stem cells | Immunodeficiency | Genetic aspects | Mutation | Kinases | DNA repair | Genes | Index Medicus | Abridged Index Medicus | Medicin och hälsovetenskap
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Journal of Bacteriology, ISSN 0021-9193, 04/2003, Volume 185, Issue 7, pp. 2066 - 2079
Life Sciences & Biomedicine | Microbiology | Science & Technology | Genome, Bacterial | Reproducibility of Results | Signal Transduction | Oligonucleotide Array Sequence Analysis - methods | Operon | Gene Silencing | Gene Expression Profiling | Pseudomonas aeruginosa - physiology | DNA-Binding Proteins - genetics | Homeodomain Proteins - genetics | Bacterial Proteins | 4-Butyrolactone - metabolism | Regulon | Trans-Activators - genetics | Transcription, Genetic | 4-Butyrolactone - analogs & derivatives | Mutation | Gene Expression Regulation, Bacterial | Analysis | Physiological aspects | Pseudomonas aeruginosa | Genetic aspects | Research | Genetic transcription | Gene expression | Bacteriology | Lactones | Pathogens | Genes | Index Medicus | Microbial Communities and Interactions
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American journal of medical genetics. Part A, ISSN 1552-4825, 01/2021, Volume 185, Issue 1, pp. 282 - 285
microcephaly | methyltransferase | delayed puberty | intellectual disability | Nephritis | Cataract | Genes | Transferases | Genetic translation | Complications and side effects | Pyrimidines | Codon | Vision disorders in children | Analysis | Genetic research | Genetic aspects | Nucleotide sequencing | DNA sequencing | Transfer RNA | Neuroimaging | Puberty | Phenotypes | Microencephaly | Growth rate | Intellectual disabilities | tRNA Leu | Cytosine | mRNA | Siblings
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Nature genetics, ISSN 1061-4036, 05/2012, Volume 44, Issue 5, pp. 586 - 592
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Transcription. Transcription factor. Splicing. Rna processing | Complex syndromes | Molecular genetics | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | DNA Helicases - chemistry | Transcription Factors - chemistry | Humans | DNA Repair Enzymes - genetics | DNA Repair - radiation effects | DNA Repair - genetics | RNA Polymerase II - metabolism | Transcription Factors - genetics | Mutation - genetics | Carrier Proteins - genetics | Poly-ADP-Ribose Binding Proteins | Exome - genetics | Ultraviolet Rays | Cockayne Syndrome - genetics | DNA Damage - genetics | RNA Polymerase II - genetics | Transcription, Genetic | DNA Helicases - genetics | DNA Damage - radiation effects | DNA Repair Enzymes - chemistry | Proteins | Medical research | Mutation | Kinases | Genes | Index Medicus
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Nucleic acids research, ISSN 0305-1048, 07/2015, Volume 43, Issue 16, pp. 7931 - 7944
Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Recombinational DNA Repair | Humans | Cells, Cultured | Intracellular Signaling Peptides and Proteins - metabolism | Protein Methyltransferases - antagonists & inhibitors | Protein Methyltransferases - metabolism | Repressor Proteins - antagonists & inhibitors | Chromosomal Proteins, Non-Histone - antagonists & inhibitors | Repressor Proteins - physiology | Histone-Lysine N-Methyltransferase - antagonists & inhibitors | Methyltransferases - antagonists & inhibitors | Methyltransferases - physiology | Protein Methyltransferases - physiology | BRCA1 Protein - metabolism | Chromatids | DNA End-Joining Repair | G2 Phase | Chromosomal Proteins, Non-Histone - physiology | DNA Damage | Tumor Suppressor p53-Binding Protein 1 | Histone-Lysine N-Methyltransferase - physiology | Index Medicus | Genome Integrity, Repair and
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