-
1دورية أكاديمية
المؤلفون: Masaaki Usami, Yasuhiro Ikawa, Yuta Sakai, Toshihiro Fujiki, Taizo Wada
المصدر: Clinical Case Reports, Vol 10, Iss 9, Pp n/a-n/a (2022)
مصطلحات موضوعية: Bloom syndrome, DNA repair disorder, gastroduodenal ulcer, gastroduodenostomy, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2050-0904Test
-
2دورية أكاديمية
المؤلفون: Agata Pastorczak, Andishe Attarbaschi, Simon Bomken, Arndt Borkhardt, Jutte van der Werff ten Bosch, Sarah Elitzur, Andrew R. Gennery, Eva Hlavackova, Arpád Kerekes, Zdenka Křenová, Wojciech Mlynarski, Tomasz Szczepanski, Tessa Wassenberg, Jan Loeffen
المصدر: Cancers; Volume 14; Issue 8; Pages: 2000
مصطلحات موضوعية: DNA repair disorder, Ataxia Telangiectasia, Nijmegen breakage syndrome, leukemia, lymphoma, clinical management
وصف الملف: application/pdf
العلاقة: Pediatric Oncology; https://dx.doi.org/10.3390/cancers14082000Test
-
3دورية أكاديمية
المؤلفون: Khouloud Zayoud, Ichraf Kraoua, Asma Chikhaoui, Nadège Calmels, Sami Bouchoucha, Cathy Obringer, Clément Crochemore, Dorra Najjar, Sinda Zarrouk, Najoua Miladi, Vincent Laugel, Miria Ricchetti, Ilhem Turki, Houda Yacoub-Youssef
المصدر: Genes; Volume 12; Issue 12; Pages: 1922
مصطلحات موضوعية: Cockayne syndrome, ERCC6, accelerated aging, neurodegeneration, DNA repair disorder
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12121922Test
-
4
المؤلفون: May Yung Tiet, Rita Horvath, Anke Hensiek
المساهمون: Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository
مصطلحات موضوعية: medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, GENETICS, Risk of malignancy, Malignancy, 03 medical and health sciences, Ataxia Telangiectasia, 0302 clinical medicine, Medicine, Atypical phenotype, Humans, Neurologists, Pathological, Immunodeficiency, 030304 developmental biology, 0303 health sciences, business.industry, nutritional and metabolic diseases, Brain, General Medicine, medicine.disease, Dermatology, Phenotype, Ataxia-telangiectasia, Mutation, Neurology (clinical), medicine.symptom, business, DNA Repair Disorder, 030217 neurology & neurosurgery
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2666c3980b3d3dfe4efb09f634939edTest
https://www.repository.cam.ac.uk/handle/1810/304603Test -
5تقرير
مصطلحات موضوعية: Nijmegen breakage syndrome, DNA repair disorder, Hodgkin lymphoma, ABVD chemotherapy
-
6
المؤلفون: Anastasiia Bondarenko
المصدر: Pediatric Immunology ISBN: 9783030212612
مصطلحات موضوعية: Microcephaly, Pediatrics, medicine.medical_specialty, business.industry, embryonic structures, food and beverages, Recurrent respiratory infections, Medicine, business, medicine.disease, DNA Repair Disorder, Immunodeficiency, Nijmegen breakage syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::817e161bb719671893d25cbf398ccee4Test
https://doi.org/10.1007/978-3-030-21262-9_125Test -
7دورية أكاديمية
المؤلفون: Slack J., Albert M. H., Balashov D., Belohradsky B. H., Bertaina A., Bleesing J., Booth C., Buechner J., Buckley R. H., Ouachee-Chardin M., Deripapa E., Drabko K., Eapen M., Feuchtinger T., Finocchi A., Gaspar H. B., Ghosh S., Gillio A., Gonzalez-Granado L. I., Grunebaum E., Gungor T., Heilmann C., Helminen M., Higuchi K., Imai K., Kalwak K., Kanazawa N., Karasu G., Kucuk Z. Y., Laberko A., Lange A., Mahlaoui N., Meisel R., Moshous D., Muramatsu H., Parikh S., Pasic S., Schmid I., Schuetz C., Schulz A., Schultz K. R., Shaw P. J., Slatter M. A., Sykora K. -W., Tamura S., Taskinen M., Wawer A., Wolska-Kusnierz B., Cowan M. J., Fischer A., Gennery A. R.
المساهمون: Slack, J, Albert, Mh, Balashov, D, Belohradsky, Bh, Bertaina, A, Bleesing, J, Booth, C, Buechner, J, Buckley, Rh, Ouachee-Chardin, M, Deripapa, E, Drabko, K, Eapen, M, Feuchtinger, T, Finocchi, A, Gaspar, Hb, Ghosh, S, Gillio, A, Gonzalez-Granado, Li, Grunebaum, E, Gungor, T, Heilmann, C, Helminen, M, Higuchi, K, Imai, K, Kalwak, K, Kanazawa, N, Karasu, G, Kucuk, Zy, Laberko, A, Lange, A, Mahlaoui, N, Meisel, R, Moshous, D, Muramatsu, H, Parikh, S, Pasic, S, Schmid, I, Schuetz, C, Schulz, A, Schultz, Kr, Shaw, Pj, Slatter, Ma, Sykora, K-, Tamura, S, Taskinen, M, Wawer, A, Wolska-Kusnierz, B, Cowan, Mj, Fischer, A, Gennery, Ar
مصطلحات موضوعية: Ataxia-telangiectasia, Cernunnos-XLF deficiency, DNA ligase IV deficiency, DNA repair disorder, Nijmegen breakage syndrome, hematopoietic stem cell transplantation, Adolescent, Allele, Child, Preschool, DNA Repair-Deficiency Disorder, Female, Follow-Up Studie, Graft vs Host Disease, Human, Infant, Kaplan-Meier Estimate, Male, Mutation, Prognosi, Treatment Outcome, Virus Disease, Young Adult, DNA Breaks, Double-Stranded, DNA Repair, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28392333; info:eu-repo/semantics/altIdentifier/wos/WOS:000419312200037; volume:141; issue:1; firstpage:322; lastpage:328.e10; journal:THE JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY; http://hdl.handle.net/2108/233839Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85018987484
-
8تقرير
المصدر: Natural History Study for DNA Repair Disorders
الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT05484570Test
-
9تقرير
المصدر: Randomized Trial of Standard Chemotherapy Alone or Combined With Atezolizumab as Adjuvant Therapy for Patients With Stage III Colon Cancer and Deficient DNA Mismatch Repair
الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT02912559Test