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1
المؤلفون: Emmanuelle Despras, Alain Sarasin, Jacques Armier, Nadem Soufir, Wei Yang, Christine Mateus, Caroline Pouvelle, Agnes Bourillon, Ludovic Martin, Caroline Robert, Patricia Kannouche, K. Opletalova
المصدر: Human Mutation. 35:117-128
مصطلحات موضوعية: Adult, Male, Models, Molecular, Skin Neoplasms, Xeroderma pigmentosum, DNA Repair, Genotype, Ultraviolet Rays, DNA polymerase, DNA repair, Mutation, Missense, DNA-Directed DNA Polymerase, Young Adult, Caffeine, Genetics, Carcinoma, medicine, Humans, Missense mutation, Melanoma, Gene, Cells, Cultured, Genetics (clinical), Aged, Retrospective Studies, Aged, 80 and over, Xeroderma Pigmentosum, biology, Protein Stability, Genetic Variation, Fibroblasts, Middle Aged, medicine.disease, Phenotype, Carcinoma, Basal Cell, Carcinoma, Squamous Cell, biology.protein, Female, Nucleotide excision repair
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92d8d760102d5f5331120748c3ca8780Test
https://doi.org/10.1002/humu.22462Test -
2
المؤلفون: Elena Botta, Tiziana Nardo, Anja Raams, Judith Offman, Daniela Sansone, Wim J. Kleijer, Alain Sarasin, Nicolaas G. J. Jaspers, Giovanna Zambruno, Alan R. Lehmann, Paolo Balestri, Miria Stefanini, Roberta Ricotti
المساهمون: Molecular Genetics, Clinical Genetics
المصدر: Human Mutation, 28(1), 92-96. Wiley-Liss Inc.
مصطلحات موضوعية: Premature aging, Adult, Male, Adolescent, Genotype, DNA repair, Ultraviolet Rays, DNA Mutational Analysis, Trichothiodystrophy, Biology, Compound heterozygosity, Nail Diseases, Intellectual Disability, Genetics, medicine, Claudin-3, Humans, Genetic Testing, Child, Genetics (clinical), Cells, Cultured, Genetic heterogeneity, Ichthyosis, Membrane Proteins, medicine.disease, Transcription Factor TFIIH, Phenotype, Child, Preschool, Mutation, Transcription factor II H, Female, Hair Diseases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e66b67fdc077d851193c259ba4a1f33fTest
https://doi.org/10.1002/humu.20419Test -
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المؤلفون: Alain Sarasin, Tiziana Nardo, Veridiana Munford, Fernanda C. Cabral, Carlos Frederico Martins Menck, Clarissa Ribeiro Reily Rocha, Januário B. Cabral-Neto, Daniela T. Soltys, Miria Stefanini, Leticia K. Lerner, Tiago Antonio de Souza
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USPمصطلحات موضوعية: Male, Heterozygote, Xeroderma pigmentosum, Adolescent, DNA Repair, DNA repair, DNA damage, Cell Survival, Protein Conformation, Ultraviolet Rays, Molecular Sequence Data, Mutation, Missense, Biology, medicine.disease_cause, Cockayne syndrome, Cell Line, Young Adult, Genotype, Genetics, medicine, Humans, Amino Acid Sequence, Cloning, Molecular, Cockayne Syndrome, Gene, Genetics (clinical), Alleles, Mutation, Xeroderma Pigmentosum, Nuclear Proteins, MICROBIOLOGIA, Sequence Analysis, DNA, Fibroblasts, medicine.disease, Endonucleases, Molecular biology, DNA-Binding Proteins, Oxidative Stress, Phenotype, Female, Sequence Alignment, Brazil, Nucleotide excision repair, DNA Damage, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::074273beee3a518622375203fb9573ecTest
https://pubmed.ncbi.nlm.nih.gov/23255472Test -
4
المؤلفون: J Bombled, Gilbert M. Lenoir, Alain Sarasin, M. F. Avril, Michel Barrois, Mauffret O, del Arroyo Ag, Agnès Chompret, D. Pham, Brookes S, Caroline Kannengiesser, Gordon Peters, Bressac-de Paillerets B
المصدر: Human mutation. 30(4)
مصطلحات موضوعية: Nonsynonymous substitution, Models, Molecular, Mutation, Missense, Biology, medicine.disease_cause, Germline, Cell Line, Germline mutation, CDKN2A, Genetics, medicine, Missense mutation, Humans, Genetic Testing, neoplasms, Melanoma, Genetics (clinical), Loss function, Cyclin-Dependent Kinase Inhibitor p16, Germ-Line Mutation, Genetic testing, Cell Proliferation, Family Health, Mutation, medicine.diagnostic_test, Cyclin-Dependent Kinase 4, Protein Structure, Tertiary, Protein Binding
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::298f93c7ef8acb8ac28dc26c1fc7928bTest
https://pubmed.ncbi.nlm.nih.gov/19260062Test