المؤلفون: Valentina M. Kozlova, Ekaterina E. Zelenova, Timur T. Valiev, Vera V. Semenova, Tatiana N. Nasedkina, Svetlana N. Mikhailova, В. М. Козлова, Е. Е. Зеленова, Т. Т. Валиев, В. В. Семенова, Т. В. Наседкина, С. Н. Михайлова

المساهمون: Not specified., Не указан.

المصدر: Pediatric pharmacology; Том 20, № 6 (2023); 557–573 ; Педиатрическая фармакология; Том 20, № 6 (2023); 557–573 ; 2500-3089 ; 1727-5776

مصطلحات موضوعية: анемия Фанкони, Down’s syndrome, Klinefelter’s syndrome, trisomy E syndrome, microdeletion syndrome, Li-Fraumeni’s syndrome, Nijmegen’s Breakage Syndrome, Bloom’s syndrome, Fanconi’s anemia, синдром Дауна, синдром Клайнфельтера, синдром трисомии 8-й хромосомы, микроделеционный синдром, синдром Ли – Фраумени, синдром Ниймегена, синдром Блума

وصف الملف: application/pdf

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Genet Med. 2022;24(11):2367–2379. doi: https://doi.org/10.1016/j.gim.2022.08.010; https://www.pedpharma.ru/jour/article/view/2377

الاتاحة: https://www.pedpharma.ru/jour/article/view/2377
https://doi.org/10.15690/pf.v20i6.2665

المؤلفون: HAN Xue-ying, CUI Feng, LI Jun

المصدر: Jichu yixue yu linchuang, Vol 42, Iss 7, Pp 1060-1066 (2022)

مصطلحات موضوعية: deleted in breast cancer 1 (dbc1), bloom's syndrome helicase (blm), apoptosis, ml216, Medicine

وصف الملف: electronic resource

Relation: http://journal11.magtechjournal.com/Jwk_jcyxylc/fileup/1001-6325/PDF/1001-6325-2022-42-7-1060.pdf; https://doaj.org/toc/1001-6325

URL الوصول: https://doaj.org/article/b14fb11e64b84604af70d647f13cc432

المؤلفون: Marilia M. Montenegro, Caio R. Quaio, Patricia Palmeira, Yanca Gasparini, Andreia Rangel‐Santos, Julian Damasceno, Estela M. Novak, Thamires M. Gimenez, Guilherme L. Yamamoto, Rachel S. Ronjo, Gil M. Novo‐Filho, Samar N. Chehimi, Evelin A. Zanardo, Alexandre T. Dias, Amom M. Nascimento, Thais V. M. M. Costa, Alberto J. da S. Duarte, Luiz L. Coutinho, Chong A. Kim, Leslie D. Kulikowski

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)

مصطلحات موضوعية: BLM gene, Transcriptome, Bloom's syndrome, Immunology, RNA‐Seq, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/35c3a715a56746a0b7510a3254638fb4

المؤلفون: Vessey, Carina Jayne

مصطلحات موضوعية: 572.8, Oncology, Breast carcinoma, Bloom's syndrome

URL الوصول: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.262690

المؤلفون: Joshua A. Sommers, Avvaru N. Suhasini, Robert M. Brosh

المصدر: Biomolecules, Vol 5, Iss 2, Pp 590-616 (2015)

مصطلحات موضوعية: helicase, DNA damage response, proteasome, ubiquitin, phosphorylation, acetylation, post-translational modification, Bloom’s syndrome, Fanconi Anemia, Cockayne syndrome, Werner syndrome, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: http://www.mdpi.com/2218-273X/5/2/590; https://doaj.org/toc/2218-273X

URL الوصول: https://doaj.org/article/c6d1a8d0d7424480a3d9da2b85aa5d47

المؤلفون: María Fernández Casanas, Kok-Lung Chan

مصطلحات موضوعية: Bloom’s syndrome complex, PICH/ERCC6L, Ultra-fine DNA bridges, chromosome segregation, sister chromatid disjunction

Relation: 10779/uos.23481809.v1; https://figshare.com/articles/journal_contribution/The_unresolved_problem_of_DNA_bridging/23481809

الاتاحة: https://figshare.com/articles/journal_contribution/The_unresolved_problem_of_DNA_bridging/23481809

المؤلفون: María Fernández-Casañas, Kok-Lung Chan

المصدر: Genes; Volume 9; Issue 12; Pages: 623

مصطلحات موضوعية: Ultra-fine DNA bridges, chromosome segregation, sister chromatid disjunction, PICH/ERCC6L, Bloom’s syndrome complex

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes9120623

الاتاحة: https://doi.org/10.3390/genes9120623

المؤلفون: Schoenaker, M.H.D. (M. H D), Henriet, S.S.V. (Stefanie S.V.), Zonderland, J. (Jip), Deuren, M. (Marcel) van, Pan-Hammarström, Q. (Qiang), Posthumus-van Sluijs, S.J. (Sandra), Pico-Knijnenburg, I. (Ingrid), Weemaes, C.M.R. (Corry), IJspeert, H. (Hanna)

المصدر: Journal of Clinical Immunology, pp. 1-10

مصطلحات موضوعية: bloom’s syndrome, class switch recombination, DNA repair, Immunodeficiency, lymphocyte, somatic hypermutations

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/102787; urn:hdl:1765/102787

الاتاحة: http://repub.eur.nl/pub/102787
https://doi.org/10.1007/s10875-017-0454-y

المؤلفون: Wu, Leonard, Bachrati, Csanad Z., Ou, Jiongwen, Xu, Chang, Yin, Jinhu, Chang, Michael, Wang, Weidong, Li, Lei, Brown, Grant W., Hickson, Ian D.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2006 Mar . 103(11), 4068-4073.

URL الوصول: https://www.jstor.org/stable/30048884

المؤلفون: Larissa Tangeman, Michael McIlhatton, Patrick Grierson, Joanna Groden, Samir Acharya

المصدر: Genes; Volume 7; Issue 9; Pages: 69

مصطلحات موضوعية: Bloom’s syndrome, rRNA transcription, BLM, topoisomerase I, growth defects, nucleolar localization

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes7090069

الاتاحة: https://doi.org/10.3390/genes7090069

المؤلفون: Puja Thadani, Sailesh Sankar, Nalini Nair, Harpal Randeeva, Zhainab Yasear, Orighomisan Awala, Narasimha Murthy, Ranganatha Rao

المصدر: Endocrine Abstracts.

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Bloom's syndrome, business.industry, medicine, medicine.disease, business, Ketoacidosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::adb0ccbf49a5c29872e87fdda871b3d4
https://doi.org/10.1530/endoabs.77.p200

المؤلفون: Ricardo Tadeu Villa

المصدر: Journal of Dermatology & Cosmetology. 4:118-121

مصطلحات موضوعية: Geography, Bloom's syndrome, Demography

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::dbc8d34f7dda96c6fc193b3e4f6c5853
https://doi.org/10.15406/jdc.2020.04.00163

المؤلفون: Groden, Joanna, Nakamura, Yusuke, German, James

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 1990 Jun 01. 87(11), 4315-4319.

URL الوصول: https://www.jstor.org/stable/2354942

المؤلفون: Nair Girija, Lobo Ivona, Jayalaksmi T, Uppe Abhay, Jindal Savita, Chandra Abhishek, Swami Shivani

المصدر: Lung India, Vol 26, Iss 3, Pp 92-94 (2009)

مصطلحات موضوعية: Bloom′s syndrome, telangiectasia, growth retardation, respiratory infections, consanguinous parentage, Diseases of the respiratory system, RC705-779

وصف الملف: electronic resource

Relation: http://www.lungindia.com/article.asp?issn=0970-2113;year=2009;volume=26;issue=3;spage=92;epage=94;aulast=Nair; https://doaj.org/toc/0970-2113

URL الوصول: https://doaj.org/article/4013c13795b1498b9d6d628a430fd281

المؤلفون: RONDELLI, DIEGO

المساهمون: tutor: S. Sertic, supervisor: M. Muzi Falconi, D. Rondelli, MUZI FALCONI, MARCO

مصطلحات موضوعية: DNA, genome instability, neuron, NER, UV, BPDE, pollutant, neurodegeneration, Parkinson, Bloom's syndrome, Settore BIO/11 - Biologia Molecolare

Relation: numberofpages:84; https://hdl.handle.net/2434/1062869

الاتاحة: https://hdl.handle.net/2434/1062869

المؤلفون: Karen J Ouyang, Michael J Matunis, Mary K Yagle, Nathan A Ellis

المصدر: Frontiers in Genetics, Vol 4 (2013)

مصطلحات موضوعية: Homologous Recombination, Bloom’s syndrome, DNA repair foci, RecQ DNA helicases, replication fork stability, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/Journal/10.3389/fgene.2013.00167/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/acfad2bdcecc4a52b535cfbe0113c7b1

المؤلفون: Sanz, Maureen M, Ph.D., FACMG, German, James, M.D., Cunniff, Christopher, M.D.

المصدر: Faculty Works: Biology, Chemistry, and Environmental Studies

مصطلحات موضوعية: bloom's syndrome, gastroesophageal reflux, management, diagnosis, treatmen, genereviews, Study, Genetics and Genomics, Life Sciences

وصف الملف: application/pdf

Relation: https://digitalcommons.molloy.edu/bces_fac/26; https://digitalcommons.molloy.edu/cgi/viewcontent.cgi?article=1027&context=bces_fac

الاتاحة: https://digitalcommons.molloy.edu/bces_fac/26
https://digitalcommons.molloy.edu/cgi/viewcontent.cgi?article=1027&context=bces_fac

المؤلفون: In The Germ Line, Fritz Müller

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: https://doc.rero.ch/record/4142/files/1_mueller_mgp.pdf.

مصطلحات موضوعية: disorders namely, Bloom’s syndrome (BS, Werner’s sy

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.634.7950

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.634.7950

المؤلفون: Frei, Christian, Gasser, Susan Margaret

المصدر: ISSN: 0021-9533 ; Journal of Cell Science, vol. 113, no. 15 (2000) p. 2641-2646.

مصطلحات موضوعية: Adenosine Triphosphatases/genetics/metabolism, Animals, Cell Division/physiology, DNA Helicases/genetics/metabolism, DNA Replication/physiology, Eukaryotic Cells/cytology/enzymology, Humans, RecQ Helicases, Sgs1p, Helicase, Checkpoint, S-phase, DNA replication, Bloom's syndrome, Werner's syndrome

Relation: info:eu-repo/semantics/altIdentifier/pmid/10893179; https://archive-ouverte.unige.ch/unige:127110; unige:127110

الاتاحة: https://archive-ouverte.unige.ch/unige:127110

المؤلفون: Christopher Cunniff, Nathan A. Ellis, Jennifer A. Bassetti

المصدر: Molecular Syndromology. 8:4-23

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Bloom's syndrome, Cancer predisposition, education, Molecular pathogenesis, nutritional and metabolic diseases, Cancer, Review Article, Biology, Photosensitive skin, medicine.disease, 03 medical and health sciences, Postnatal growth deficiency, 030104 developmental biology, Endocrinology, Immune system, Insulin resistance, Internal medicine, Genetics, medicine, sense organs, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::115827009a8313fe6633edcf725e90d7
https://doi.org/10.1159/000452082