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1دورية أكاديمية
المؤلفون: Karaer, D., Durak, T., Karaer, K.
مصطلحات موضوعية: CCBE1 protein, human, calcium binding protein, tumor suppressor protein, case report, craniofacial malformation, intestine lymphangiectasia, lymphedema, mutation, Calcium-Binding Proteins, Craniofacial Abnormalities, Hennekam lymphangiectasia lymphedema syndrome, Humans, Lymphangiectasis, Intestinal, Tumor Suppressor Proteins
العلاقة: Clinical Dysmorphology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11499/56860Test; https://doi.org/10.1097/MCD.0000000000000488Test; 33; 87; 89; 2-s2.0-85186840507
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2دورية أكاديمية
المؤلفون: Shinwari, K., Wu, Y., Rehman, H. M., Xiao, N., Bolkov, M., Tuzankina, I., Chereshnev, V.
المصدر: BMC Bioinformatics
مصطلحات موضوعية: ADAMTS3, HENNEKAM SYNDROME, IN-SILICO, NONSYNONYMOUS SNP, PRIMARY IMMUNODEFICIENCY, DIAGNOSIS, GENES, MOLECULAR DYNAMICS, PATIENT TREATMENT, RISK ASSESSMENT, LYMPHOEDEMA, PROTEIN FUNCTIONS, PROTEIN STABILITY, SECONDARY STRUCTURES, SINGLE NUCLEOTIDE POLYMORPHISMS, PROTEINS, BIOINFORMATICS, GENETICS, HUMAN, LYMPHEDEMA, SINGLE NUCLEOTIDE POLYMORPHISM, COMPUTATIONAL BIOLOGY, HENNEKAM LYMPHANGIECTASIA LYMPHEDEMA SYNDROME, HUMANS, MOLECULAR DYNAMICS SIMULATION, POLYMORPHISM, SINGLE NUCLEOTIDE
وصف الملف: application/pdf
العلاقة: Shinwari, K, Wu, Y, Rehman, HM, Xiao, N, Bolkov, M, Tuzankina, I & Chereshnev, V 2023, 'In-silico assessment of high-risk non-synonymous SNPs in ADAMTS3 gene associated with Hennekam syndrome and their impact on protein stability and function', BMC Bioinformatics, Том. 24, № 1, 251 (2023). https://doi.org/10.1186/s12859-023-05361-6Test; Shinwari, K., Wu, Y., Rehman, H. M., Xiao, N., Bolkov, M., Tuzankina, I., & Chereshnev, V. (2023). In-silico assessment of high-risk non-synonymous SNPs in ADAMTS3 gene associated with Hennekam syndrome and their impact on protein stability and function. BMC Bioinformatics, 24(1), [251 (2023)]. https://doi.org/10.1186/s12859-023-05361-6Test; Final; All Open Access, Gold, Green; https://www.scopus.com/inward/record.uri?eid=2-s2.0-85162065984&doi=10.1186%2fs12859-023-05361-6&partnerID=40&md5=ef01076c1951ea816a468bee94be0005Test; https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/s12859-023-05361-6Test; http://elar.urfu.ru/handle/10995/130561Test; 85162065984; 001008701700001
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3دورية أكاديمية
المؤلفون: Yeong Guk Lee, Seung Chan Kim, Si-Bog Park, Mi Jung Kim
المصدر: Annals of Rehabilitation Medicine, Vol 42, Iss 1, Pp 184-188 (2018)
مصطلحات موضوعية: Lymphedema, Hennekam lymphangiectasia lymphedema syndrome, Medicine
وصف الملف: electronic resource
العلاقة: http://www.e-arm.org/upload/pdf/arm-42-184.pdfTest; https://doaj.org/toc/2234-0645Test; https://doaj.org/toc/2234-0653Test
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4رسالة جامعية
المؤلفون: Morishita, Kazushige
مصطلحات موضوعية: Drosophila, DOCK family, Sponge, Zizimin, signaling pathway, ERK, ASP, trachea, Notch, disease, fat, Van Maldergem syndrome, Hennekam lymphangiectasia-lymphedema syndrome
وصف الملف: application/pdf
Degree: 博士（学術） -- 京都工芸繊維大学
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5
المؤلفون: Isabelle Meyts, Leen Moens, Sara Kaut, Giorgia Bucciol
المصدر: Journal of Clinical Immunology. 41:1674-1676
مصطلحات موضوعية: Hennekam lymphangiectasia-lymphedema syndrome, medicine.medical_specialty, business.industry, Immunology, medicine, MEDLINE, Immunology and Allergy, medicine.disease, business, Dermatology, Immunodeficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c12dd944bd343c270ad79b27c4310dfcTest
https://doi.org/10.1007/s10875-021-01089-1Test -
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المؤلفون: Douglas Woelkers, Tara S. Andreasen, Rong Mao, Christine E. Miller, Tatiana Tvrdik, Leah M Lamale-Smith, Dora Melber, Thomas R. Moore
المصدر: Clinical Case Reports
Clinical case reports, vol 6, iss 12مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Prenatal diagnosis, Case Report, Case Reports, 030105 genetics & heredity, genetic testing, Hennekam lymphangiectasia-lymphedema syndrome, 03 medical and health sciences, hydrops fetalis, Hydrops fetalis, Medicine, Exome sequencing, Genetic testing, congenital abnormalities, prenatal diagnosis, medicine.diagnostic_test, business.industry, General Medicine, medicine.disease, Dermatology, Hennekam syndrome, Etiology, business, Novel mutation, exome sequencing
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b22d44c9b238f364994db05489269f7eTest
http://europepmc.org/articles/PMC6293140Test -
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المؤلفون: Seung Chan Kim, Yeong Guk Lee, Mi-Jung Kim, Si-Bog Park
المصدر: Annals of Rehabilitation Medicine
Annals of Rehabilitation Medicine, Vol 42, Iss 1, Pp 184-188 (2018)مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, lcsh:R, Rehabilitation, lcsh:Medicine, Hennekam lymphangiectasia lymphedema syndrome, Case Report, Lymphangiectasia, medicine.disease, Dermatology, Hennekam lymphangiectasia-lymphedema syndrome, 03 medical and health sciences, Hennekam syndrome, 030104 developmental biology, Lymphatic system, Lymphedema, medicine, LYMPH EDEMA, Edema control, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ca16d4da23631e1d7851171c223685bTest
https://pubmed.ncbi.nlm.nih.gov/29560340Test -
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المؤلفون: Morishita, Kazushige
مصطلحات موضوعية: signaling pathway, ERK, ASP, disease, Van Maldergem syndrome, Notch, Zizimin, Hennekam lymphangiectasia-lymphedema syndrome, Sponge, fat, DOCK family, Drosophila, trachea
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=jairo_______::295764bdd9db87a15fc165ee87933bc0Test
http://hdl.handle.net/10212/2423Test -
9
المؤلفون: Stefan Schulte-Merker, Michael Jeltsch, Veli-Matti Leppänen, Yvonne Padberg, Kari Alitalo, Josi Peterson-Maduro, M. Guy Roukens, Frank L. Bos, Dörte Schulte
المصدر: Circulation Research, 116(10), 1660. Lippincott Williams and Wilkins
مصطلحات موضوعية: Physiology, Vascular Endothelial Growth Factor C, Mutant, Regulator, Craniofacial Abnormalities, Mice, 0302 clinical medicine, vascular, Gene Knock-In Techniques, Lymphedema, Lymphangiogenesis, Non-U.S. Gov't, Zebrafish, Medicine(all), 0303 health sciences, biology, Research Support, Non-U.S. Gov't, Gene Expression Regulation, Developmental, Cell biology, Phenotype, Vascular endothelial growth factor C, CCBE1 protein, 030220 oncology & carcinogenesis, Collagen, Genital Diseases, Male, Cardiology and Cardiovascular Medicine, Protein Binding, Signal Transduction, Endothelium, vascular, Genotype, Protein domain, Gestational Age, Mice, Transgenic, Research Support, Transfection, 03 medical and health sciences, Hennekam lymphangiectasia-lymphedema syndrome, In vivo, Journal Article, Animals, Humans, Protein Interaction Domains and Motifs, Endothelium, Lymphatic Vessels, 030304 developmental biology, Phenocopy, Binding Sites, Epidermal Growth Factor, Tumor Suppressor Proteins, Calcium-Binding Proteins, Endothelial Cells, Zebrafish Proteins, biology.organism_classification, HEK293 Cells, Mutation, Immunology, biology.protein, Vascular endothelial growth factor, Protein A, Lymphangiectasis, Intestinal
وصف الملف: image/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecfaa06a9ab3adc625b01b56e0fd6642Test
https://doi.org/10.1161/circresaha.116.304949Test -
10دورية أكاديمية
المؤلفون: Roukens, M. Guy, Peterson-Maduro, Josi, Padberg, Yvonne, Jeltsch, Michael, Leppänen, Veli Matti, Bos, Frank L., Alitalo, Kari, Schulte-Merker, Stefan, Schulte, Dörte
المساهمون: CMM Groep Coffer, Hubrecht Institute with UMC, Cancer
مصطلحات موضوعية: CCBE1 protein, Endothelium, vascular, Hennekam lymphangiectasia-lymphedema syndrome, Lymphangiogenesis, Vascular endothelial growth factor, Physiology, Cardiology and Cardiovascular Medicine, General Medicine, Journal Article, Research Support, Non-U.S. Gov't
وصف الملف: application/pdf
النص الكامل