المؤلفون: Cherif Badja, Sophie Momen, Gene Ching Chiek Koh, Soraya Boushaki, Theodoros I. Roumeliotis, Zuza Kozik, Ian Jones, Vicky Bousgouni, João M.L. Dias, Marios G. Krokidis, Jamie Young, Hongwei Chen, Ming Yang, France Docquier, Yasin Memari, Lorea Valcarcel-Zimenez, Komal Gupta, Li Ren Kong, Heather Fawcett, Florian Robert, Salome Zhao, Andrea Degasperi, Yogesh Kumar, Helen Davies, Rebecca Harris, Christian Frezza, Chryssostomos Chatgilialoglu, Robert Sarkany, Alan Lehmann, Chris Bakal, Jyoti Choudhary, Hiva Fassihi, Serena Nik-Zainal

المصدر: Cell Reports, Vol 43, Iss 6, Pp 114243- (2024)

مصطلحات موضوعية: CP: Neuroscience, CP: Cell biology, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124724005710; https://doaj.org/toc/2211-1247

URL الوصول: https://doaj.org/article/3afcfcc423e04f808db8a71c2cb5d72f

المؤلفون: Amit Gautam, Heather Fawcett, Kamila Burdova, Jan Brazina, Keith Caldecott

مصطلحات موضوعية: Biological sciences, Biomedical and clinical sciences, Health sciences, PARP1, base excision repair, nucleotide excision repair, photoproducts, single-strand break repair, 06 Biological Sciences, 11 Medical and Health Sciences, Developmental Biology, 31 Biological sciences, 32 Biomedical and clinical sciences, 42 Health sciences

Relation: 10779/uos.24294967.v1; https://figshare.com/articles/journal_contribution/APE1-dependent_base_excision_repair_of_DNA_photodimers_in_human_cells/24294967

الاتاحة: https://figshare.com/articles/journal_contribution/APE1-dependent_base_excision_repair_of_DNA_photodimers_in_human_cells/24294967

المؤلفون: Adesoji Abiona, Nuno Cordeiro, Heather Fawcett, Deborah Tamura, Sikandar G Khan, John J DiGiovanna, Alan Lehmann, Hiva Fassihi

مصطلحات موضوعية: Biomedical and clinical sciences, Clinical sciences, Health sciences, Psychology, Adolescent, Anti-Bacterial Agents, Chemical and Drug Induced Liver Injury, Female, Fibroblasts, Humans, Metronidazole, Mutation, Trichothiodystrophy Syndromes, Xeroderma Pigmentosum, Xeroderma Pigmentosum Group D Protein, 32 Biomedical and Clinical Sciences, 3202 Clinical Sciences, Liver Disease, Genetics, Brain Disorders, Clinical Research, Rare Diseases, Digestive Diseases, 2 Aetiology, 2.1 Biological and endogenous factors, 3 Good Health and Well Being, 11 Medical and Health Sciences, 17 Psychology and Cognitive Sciences, Pediatrics, 42 Health sciences

Relation: 10779/uos.25416205.v1; https://figshare.com/articles/journal_contribution/Metronidazole-induced_hepatitis_in_a_teenager_with_xeroderma_pigmentosum_and_trichothiodystrophy_overlap/25416205

الاتاحة: https://figshare.com/articles/journal_contribution/Metronidazole-induced_hepatitis_in_a_teenager_with_xeroderma_pigmentosum_and_trichothiodystrophy_overlap/25416205

المؤلفون: Cherif Badja, Sophie Momen, Gene Ching Cheik Koh, Soraya Boushaki, Theodoros I. Roumeliotis, Zuza Kozik, Ian Jones, Vicky Bousgouni, João M. L. Dias, Marios G. Krokidis, Jamie Young, Hongwei Chen, Ming Yang, France Docquier, Yasin Memari, Lorea Valcarcel-Jimenez, Komal Gupta, Li Ren Kong, Heather Fawcett, Florian Robert, Salome Zhao, Andrea Degasperi, Helen Davies, Rebecca Harris, Christian Frezza, Chryssostomos Chatgilialoglu, Robert Sarkany, Alan Lehmann, Chris Bakal, Jyoti Choudhary, Hiva Fassihi, Serena Nik-Zainal

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b233f67d5f67e6776714ccf87baf0001
https://doi.org/10.1101/2023.05.22.23290124

المؤلفون: Heather Fawcett

Resource Type: eBook.

Categories: FICTION / Fairy Tales, Folk Tales, Legends & Mythology, FICTION / Fantasy / Romance, FICTION / Fantasy / Action & Adventure

المؤلفون: Nuno Cordeiro, Hiva Fassihi, Heather Fawcett, Alan R. Lehmann, John J. DiGiovanna, Adesoji Abiona, Deborah Tamura, Sikandar G. Khan

المصدر: Pediatrics. 148(4)

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Xeroderma pigmentosum, Adolescent, medicine.drug_class, Antibiotics, Trichothiodystrophy, Cockayne syndrome, Metronidazole, medicine, Humans, Trichothiodystrophy Syndromes, skin and connective tissue diseases, Xeroderma Pigmentosum Group D Protein, Hepatitis, Xeroderma Pigmentosum, business.industry, nutritional and metabolic diseases, Fibroblasts, medicine.disease, Dermatology, Anti-Bacterial Agents, Pediatrics, Perinatology and Child Health, Mutation, ERCC2, Female, Chemical and Drug Induced Liver Injury, business, Nucleotide excision repair, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::805d584be745ab31ad39601d840fd2b0
https://pubmed.ncbi.nlm.nih.gov/34593652

المؤلفون: Heather Fawcett

Resource Type: eBook.

الموضوعات: Novels, Family life--Fiction, Friendship--Fiction, Photography--Fiction, Contests--Fiction

Categories: JUVENILE FICTION / Social Themes / Friendship, JUVENILE FICTION / Animals / Marine Life, JUVENILE FICTION / Fantasy / General

المؤلفون: Heather Fawcett

Resource Type: eBook.

الموضوعات: Fairies--Fiction, Magic--Fiction, Imaginary places--Fiction

Categories: FICTION / Fairy Tales, Folk Tales, Legends & Mythology, FICTION / Fantasy / Romance, FICTION / Fantasy / Action & Adventure

المؤلفون: Heather Fawcett

Resource Type: eBook.

الموضوعات: Friendship--Fiction, Magic--Fiction, Man-woman relationships--Fiction, Fairies--Fiction, Women college teachers--Fiction

Categories: FICTION / Fairy Tales, Folk Tales, Legends & Mythology, FICTION / Fantasy / Romance, FICTION / Fantasy / Action & Adventure

المؤلفون: Heather Fawcett

Resource Type: eBook.

الموضوعات: Novels, Family life--Fiction, Islands--Fiction, Grandparent and child--Fiction, Grandfathers--Fiction, Fantasy, Fantasy fiction

Categories: JUVENILE FICTION / Family / Siblings, JUVENILE FICTION / Action & Adventure / General, JUVENILE FICTION / Mysteries & Detective Stories

المؤلفون: Shinichi Moriwaki, Donata Orioli, Marie-Aude Spitz, Nadège Calmels, Nan Jia, Katsuo Sugita, Elena Botta, Alan R. Lehmann, Miria Stefanini, Vincent Laugel, Heather Fawcett, Masaya Kubota, Cathy Obringer, Tiziana Nardo, Tomoo Ogi, Yuka Nakazawa, Manuela Lanzafame

المصدر: Journal of Medical Genetics. 55:329-343

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Adolescent, Ultraviolet Rays, Postnatal growth failure, Mutation, Missense, Cockayne syndrome, Cohort Studies, Young Adult, 03 medical and health sciences, Pregnancy, Genetics, Humans, Medicine, Genetic Predisposition to Disease, Cutaneous photosensitivity, Clinical significance, Photosensitivity Disorders, Child, Cockayne Syndrome, Poly-ADP-Ribose Binding Proteins, Genetics (clinical), business.industry, DNA Helicases, Infant, medicine.disease, Introns, Large cohort, DNA Repair Enzymes, 030104 developmental biology, ERCC8, Child, Preschool, Female, Skeletal abnormalities, business, ERCC6, Transcription Factors

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2dcc4f7cbaebd7c68d474affad44197
https://doi.org/10.1136/jmedgenet-2017-104877

المؤلفون: Siripan Limsirichaikul, Atsuko Niimi, Heather Fawcett, Alan Lehmann, Shunichi Yamashita, Tomoo Ogi

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://nar.oxfordjournals.org/content/early/2009/01/29/nar.gkp023.full-text-lowres.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.584.7265; http://nar.oxfordjournals.org/content/early/2009/01/29/nar.gkp023.full-text-lowres.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.584.7265
http://nar.oxfordjournals.org/content/early/2009/01/29/nar.gkp023.full-text-lowres.pdf

المؤلفون: Siripan Limsirichaikul, Atsuko Niimi, Heather Fawcett, Alan Lehmann, Shunichi Yamashita, Tomoo Ogi

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://nar.oxfordjournals.org/content/37/4/e31.full-text-lowres.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.545.8661; http://nar.oxfordjournals.org/content/37/4/e31.full-text-lowres.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.545.8661
http://nar.oxfordjournals.org/content/37/4/e31.full-text-lowres.pdf

المؤلفون: Nadege Calmels, Elena Botta, Nan Jia, Heather Fawcett, Tiziana Nardo, Yuka Nakazawa, Manuela Lanzafame, Shinichi Moriwaki, Katsuo Sugita, Masaya Kubota, Cathy Orbinger, Marie-Aude Spitz, Miria Stefanini, Vincent Laugel, Donata Orioli, Tomoo Ogi, Alan Lehmann

مصطلحات موضوعية: Uncategorised value

Relation: 10779/uos.23455760.v1; https://figshare.com/articles/journal_contribution/Functional_and_clinical_relevance_of_novel_mutations_in_a_large_cohort_of_patients_with_Cockayne_syndrome/23455760

الاتاحة: https://figshare.com/articles/journal_contribution/Functional_and_clinical_relevance_of_novel_mutations_in_a_large_cohort_of_patients_with_Cockayne_syndrome/23455760

المؤلفون: D.H. McGIBBON, Miria Stefanini, Alistair Robson, Nicolaas G. J. Jaspers, Hiva Fassihi, Heather Fawcett, Robert Sarkany, Alan R. Lehmann, Stephen Turner, K. Mullard, M. Sethi

المساهمون: Molecular Genetics

المصدر: British Journal of Dermatology, 169(6), 1279-1287. Wiley-Blackwell Publishing Ltd

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Skin Neoplasms, Xeroderma pigmentosum, Adolescent, Sunburn, Kaplan-Meier Estimate, Dermatology, Disease, Article, Young Adult, SDG 3 - Good Health and Well-being, medicine, Humans, In patient, Age of Onset, skin and connective tissue diseases, Melanoma, Xeroderma Pigmentosum, business.industry, Middle Aged, medicine.disease, Complementation, Increased risk, Case-Control Studies, Cohort, Female, Nervous System Diseases, Skin cancer, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f722360ec23295e8b6b4fa432307e704
https://doi.org/10.1111/bjd.12523

المؤلفون: Hiva Fassihi, Mieran Sethi, Heather Fawcett, Jonathan Wing, Natalie Chandler, Shehla Mohammed, Emma Craythorne, Ana M S Morley, Rongxuan Lim, Sally Turner, Tanya Henshaw, Isabel Garrood, Paola Giunti, Tammy Hedderly, Adesoji Abiona, Harsha Naik, Gemma Harrop, David McGibbon, Nicolaas G J Jaspers, Elena Botta, Tiziana Nardo, Miria Stefanini, Antony R Young, Robert P E Sarkany, Alan Lehmann

مصطلحات موضوعية: Uncategorised value

Relation: 10779/uos.23443151.v1; https://figshare.com/articles/journal_contribution/Deep_phenotyping_of_89_xeroderma_pigmentosum_patients_reveals_unexpected_heterogeneity_dependent_on_the_precise_molecular_defect/23443151

الاتاحة: https://figshare.com/articles/journal_contribution/Deep_phenotyping_of_89_xeroderma_pigmentosum_patients_reveals_unexpected_heterogeneity_dependent_on_the_precise_molecular_defect/23443151

المؤلفون: Mieran Sethi, Shaheen Hague, Heather Fawcett, Jonathan F Wing, Natalie Chandler, Shehla Mohammed, Ian M Frayling, Paul G Norris, David McGibbon, Antony R Young, Robert P E Sarkany, Alan Lehmann, Hiva Fassihi

مصطلحات موضوعية: Uncategorised value

Relation: 10779/uos.23460698.v1; https://figshare.com/articles/journal_contribution/_Letter_A_distinct_genotype_of_XP_complementation_group_A_surprisingly_mild_phenotype_highly_prevalent_in_Northern_India_Pakistan_Afghanistan/23460698

الاتاحة: https://figshare.com/articles/journal_contribution/_Letter_A_distinct_genotype_of_XP_complementation_group_A_surprisingly_mild_phenotype_highly_prevalent_in_Northern_India_Pakistan_Afghanistan/23460698

المؤلفون: Paola Giunti, Tiziana Nardo, Gemma Harrop, Natalie Chandler, Robert Sarkany, Antony R. Young, Jonathan F. Wing, Elena Botta, Adesoji Abiona, Tammy Hedderly, Nicolaas G. J. Jaspers, Harsha Naik, Shehla Mohammed, D.H. McGIBBON, Ana M. S. Morley, Emma Craythorne, Miria Stefanini, Mieran Sethi, Heather Fawcett, Sally Turner, Hiva Fassihi, Alan R. Lehmann, Tanya Henshaw, Isabel Garrood, Rongxuan Lim

المساهمون: Molecular Genetics

المصدر: Proceedings of the National Academy of Sciences of the U.S.A., 113(9), E1236-E1245. National Academy of Sciences

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Pathology, Xeroderma pigmentosum, Adolescent, DNA repair, Biology, Cockayne syndrome, Genetic Heterogeneity, Young Adult, 03 medical and health sciences, SDG 3 - Good Health and Well-being, medicine, Humans, Sunburn, skin and connective tissue diseases, Child, Xeroderma Pigmentosum, Multidisciplinary, Genetic heterogeneity, Point mutation, Infant, Middle Aged, medicine.disease, Dermatology, United Kingdom, Phenotype, 030104 developmental biology, PNAS Plus, Child, Preschool, Female, Skin cancer, Nucleotide excision repair

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32f01bb327256afb61d202039231d5db
https://pure.eur.nl/en/publications/c4663d7f-63fa-48f8-95f5-18978d5bf723

المؤلفون: Mieran Sethi, Jonathan F. Wing, Ian M. Frayling, D.H. McGIBBON, Antony R. Young, Shaheen Haque, Heather Fawcett, Alan R. Lehmann, Hiva Fassihi, Shehla Mohammed, Paul Norris, Robert Sarkany, Natalie Chandler

المصدر: The Journal of investigative dermatology. 136(4)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Xeroderma pigmentosum, Mild phenotype, RB155.5, Adolescent, DNA Repair, Genotype, DNA repair, India, Dermatology, Biology, Biochemistry, Complementation group, 030207 dermatology & venereal diseases, 03 medical and health sciences, Young Adult, 0302 clinical medicine, medicine, Humans, Pakistan, Child, Ultraviolet radiation, Molecular Biology, Aged, Genetics, Xeroderma Pigmentosum, Afghanistan, Facies, Cell Biology, Middle Aged, medicine.disease, Phenotype, United Kingdom, Xeroderma Pigmentosum Group A Protein, 030104 developmental biology, Child, Preschool, Female, Nucleotide excision repair

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab0237f0ee49e683c09d18aa8a1ec261
https://pubmed.ncbi.nlm.nih.gov/26743599

المؤلفون: J.-E. Seet, Alan R. Lehmann, Tiziana Nardo, Cyril Fisher, Heather Fawcett, Jonathan F. Wing, A Sandison, Miria Stefanini, J. J. Cream, R. U Sidwell

المصدر: British Journal of Dermatology. 155:81-88

مصطلحات موضوعية: Mutation, Pathology, medicine.medical_specialty, Xeroderma pigmentosum, DNA repair, DNA damage, Point mutation, Dermatology, Biology, medicine.disease, medicine.disease_cause, Molecular biology, Complementation, medicine, Nucleotide excision repair, Spindle Cell Melanoma

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d56bebcba148416c13c3bced687780de
https://doi.org/10.1111/j.1365-2133.2006.07272.x