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1دورية أكاديمية
المؤلفون: Na Miao, Yao Zhang, Jin-Ying Liao, Lin Zhou, Ji-Cai He, Rong-Qin Yang, Xu-Yang Liu, Li Tang
المصدر: International Journal of Ophthalmology, Vol 16, Iss 5, Pp 694-699 (2023)
مصطلحات موضوعية: weill-marchesani syndrome, adamts17, missense variation, molecular genetics, Ophthalmology, RE1-994
وصف الملف: electronic resource
العلاقة: http://ies.ijo.cn/en_publish/2023/5/20230504.pdfTest; https://doaj.org/toc/2222-3959Test; https://doaj.org/toc/2227-4898Test
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2دورية أكاديميةAbnormal lens thickening in a child with Weill–Marchesani syndrome 4: A 3-year follow-up case report
المؤلفون: Junting Huang, Kailai Nie, Xinpin Lv, Yuting Liu, Guiqi Yang, Junjiang Fu, Longqian Liu, Hongbin Lv
المصدر: Frontiers in Medicine, Vol 9 (2023)
مصطلحات موضوعية: Weill–Marchesani syndrome, ADAMTS17 gene, lens, myopia, microspherophakia, Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fmed.2022.1021489/fullTest; https://doaj.org/toc/2296-858XTest
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3دورية أكاديمية
المؤلفون: Betina Biagetti, Irene Valenzuela, Ariadna Campos-Martorell, Berta Campos, Sara Hernandez, Marina Giralt, Noelia Díaz-Troyano, Emilio Iniesta-Serrano, Diego Yeste, Rafael Simó
المصدر: Diagnostics; Volume 13; Issue 13; Pages: 2259
مصطلحات موضوعية: short stature, genetics, macimorelin, GHS-R, ADAMTS, ADAMTS17
وصف الملف: application/pdf
العلاقة: Clinical Laboratory Medicine; https://dx.doi.org/10.3390/diagnostics13132259Test
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4دورية أكاديمية
المؤلفون: Xiaowei Yu, Brad Kline, Ying Han, Yan Gao, Zhigang Fan, Yan Shi
المصدر: American Journal of Ophthalmology Case Reports, Vol 26, Iss , Pp 101541- (2022)
مصطلحات موضوعية: Weill-Marchesani syndrome 4, Angle-closure glaucoma, Recessive ADAMTS17 variants, Ophthalmology, RE1-994
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2451993622002870Test; https://doaj.org/toc/2451-9936Test
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5دورية أكاديمية
المؤلفون: Emily C. Jeanes, James A. C. Oliver, Sally L. Ricketts, David J. Gould, Cathryn S. Mellersh
المصدر: Canine Genetics and Epidemiology, Vol 6, Iss 1, Pp 1-11 (2019)
مصطلحات موضوعية: ADAMTS17, Height, Primary open angle Glaucoma, Primary Lens luxation, Weill-Marchesani-like syndrome, Genetics, QH426-470, Zoology, QL1-991
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s40575-019-0071-6Test; https://doaj.org/toc/2052-6687Test
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6
المؤلفون: Junting Huang (389484), Kailai Nie (6383708), Xinpin Lv (14347599), Yuting Liu (270221), Guiqi Yang (14347602), Junjiang Fu (8785076), Longqian Liu (2921433), Hongbin Lv (2038573)
مصطلحات موضوعية: Dermatology, Emergency Medicine, Gastroenterology and Hepatology, Geriatrics and Gerontology, Intensive Care, Medical Genetics (excl. Cancer Genetics), Nephrology and Urology, Nuclear Medicine, Orthopaedics, Otorhinolaryngology, Pathology (excl. Oral Pathology), Radiology and Organ Imaging, Foetal Development and Medicine, Obstetrics and Gynaecology, Family Care, Primary Health Care, Medical and Health Sciences not elsewhere classified, Weill–Marchesani syndrome, ADAMTS17 gene, lens, myopia, microspherophakia
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7
المؤلفون: Junting Huang (389484), Kailai Nie (6383708), Xinpin Lv (14347599), Yuting Liu (270221), Guiqi Yang (14347602), Junjiang Fu (8785076), Longqian Liu (2921433), Hongbin Lv (2038573)
مصطلحات موضوعية: Dermatology, Emergency Medicine, Gastroenterology and Hepatology, Geriatrics and Gerontology, Intensive Care, Medical Genetics (excl. Cancer Genetics), Nephrology and Urology, Nuclear Medicine, Orthopaedics, Otorhinolaryngology, Pathology (excl. Oral Pathology), Radiology and Organ Imaging, Foetal Development and Medicine, Obstetrics and Gynaecology, Family Care, Primary Health Care, Medical and Health Sciences not elsewhere classified, Weill–Marchesani syndrome, ADAMTS17 gene, lens, myopia, microspherophakia
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8
المؤلفون: Sally L. Ricketts, Cathryn S. Mellersh, Emily C. Jeanes, David J Gould, James A. C. Oliver
المصدر: Canine Genetics and Epidemiology, Vol 6, Iss 1, Pp 1-11 (2019)
مصطلحات موضوعية: medicine.medical_specialty, lcsh:QH426-470, Open angle glaucoma, Withers, Weill-Marchesani-like syndrome, Glaucoma, Gastroenterology, Short stature, Petit Basset Griffon Vendeen, Internal medicine, lcsh:Zoology, Linear regression, Medicine, lcsh:QL1-991, Allele, Ectopia lentis, Primary open angle Glaucoma, Height, business.industry, ADAMTS17, General Medicine, medicine.disease, lcsh:Genetics, Primary Lens luxation, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9070b0658b7224ca330ce01a02e2d74bTest
https://doi.org/10.1186/s40575-019-0071-6Test -
9
المؤلفون: Emily C, Jeanes, James A C, Oliver, Sally L, Ricketts, David J, Gould, Cathryn S, Mellersh
المصدر: Canine Genetics and Epidemiology
مصطلحات موضوعية: Primary open angle Glaucoma, Height, Research, Weill-Marchesani-like syndrome, ADAMTS17, Primary Lens luxation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::c9147039af8adb53f9c454c982d55d96Test
https://pubmed.ncbi.nlm.nih.gov/31131111Test -
10
المؤلفون: Ioannis Papaconstantinou, Christos Koutserimpas, Maria Gazouli, Evangelia Legaki, George Karamanolis, George Gkiokas, Alexandra Argyrou
المصدر: Journal of Neurogastroenterology and Motility
مصطلحات موضوعية: medicine.medical_specialty, Locus (genetics), Disease, BARX1, Gastroenterology, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Genotype, medicine, Allele, Polymorphism, Prospective cohort study, business.industry, Reflux, ADAMTS17, medicine.disease, digestive system diseases, humanities, 3. Good health, Gastroesophageal reflux, 030220 oncology & carcinogenesis, GERD, 030211 gastroenterology & hepatology, Original Article, Neurology (clinical), genetic, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15c1b39f43b380f5d4cf056d5c23c40dTest
https://pubmed.ncbi.nlm.nih.gov/31048564Test