المؤلفون: Xian Lv, Chunyue Wang, Lu Liu, Guoqing Yin, Wen Zhang, Fuad A. Abdu, Tingting Shi, Qingfeng Zhang, Wenliang Che

المصدر: Lipids in Health and Disease, Vol 22, Iss 1, Pp 1-11 (2023)

مصطلحات موضوعية: Familial hypercholesterolemia, LDLR, APOB, Pathogenic mutation, PCSK9 inhibitor, Nutritional diseases. Deficiency diseases, RC620-627

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1476-511XTest

الوصول الحر: https://doaj.org/article/a1f9ef34a536437faa7e9c8753905ba3Test

المؤلفون: Peng Ding, Yuan Zhou, Kai-Chen Zhang, Sheng Li, Kun-lan Long, Jun Chen, Ying-jie Chen, Pei-yang Gao

المصدر: Frontiers in Cardiovascular Medicine, Vol 10 (2023)

مصطلحات موضوعية: portal vein thrombosis, superior mesenteric vein thrombosis, PROS1, protein S deficiency, case report, pathogenic mutation, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fcvm.2023.1277676/fullTest; https://doaj.org/toc/2297-055XTest

الوصول الحر: https://doaj.org/article/b12567bdc65149edabd4753c89e14f2fTest

المؤلفون: Federica Di Maggio, Giuseppe Boccia, Marcella Nunziato, Marcello Filotico, Vincenzo Montesarchio, Maria D’Armiento, Francesco Corcione, Francesco Salvatore

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 5, p 2716 (2024)

مصطلحات موضوعية: early cases of EOCRC, colon cancer, multi-gene oncology panel, NGS, SMARCA4 pathogenic mutation, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/25/5/2716Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/903b19fac5a1471ca4383aac685b3675Test

المؤلفون: Zhenzhen Shao, Jinpu Yu, Yanan Cheng, Wenjuan Ma, Peifang Liu, Hong Lu

المصدر: BMC Cancer, Vol 23, Iss 1, Pp 1-13 (2023)

مصطلحات موضوعية: Breast cancer, MRI phenotypes, Biologic features, Pathogenic mutation, Disease recurrence or metastasis, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1471-2407Test

الوصول الحر: https://doaj.org/article/bcc58d67721d4305bf6e160e28f7669fTest

المؤلفون: Bahareh Mazrouei, Mohammad Mehdi Heidari, Mehri Khatami

المصدر: Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Īlām, Vol 30, Iss 3, Pp 12-28 (2022)

مصطلحات موضوعية: bioinformatics, cx3cr1 gene, pathogenic mutation, recurrent pregnancy loss, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: http://sjimu.medilam.ac.ir/article-1-6948-en.htmlTest; https://doaj.org/toc/1563-4728Test; https://doaj.org/toc/2588-3135Test

الوصول الحر: https://doaj.org/article/2a5860d16e5644009602f7eadb17eea1Test

المؤلفون: Pasquadibisceglie, Andrea, Bonaccorsi di Patti, Maria Carmela, Musci, Giovanni, Polticelli, Fabio

المساهمون: Pasquadibisceglie, Andrea, Bonaccorsi di Patti, Maria Carmela, Musci, Giovanni, Polticelli, Fabio

مصطلحات موضوعية: DMT1, ZIP14, ZIP8, ferroportin, iron transport, mitoferrin, pathogenic mutation, transferrin

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:001056829400001; volume:13; issue:8; journal:BIOMOLECULES; https://hdl.handle.net/11590/463693Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85168824123; https://www.mdpi.com/2218-273X/13/8/1172Test

الإتاحة: https://doi.org/10.3390/biom13081172Test
https://hdl.handle.net/11590/463693Test
https://www.mdpi.com/2218-273X/13/8/1172Test

المؤلفون: Reeba Mary Issac, Prema Saldanha, Jessy Mangalathu Mathai, Jency Mathews, Rebecca Mathews, Bindu Kumari, Tiju Chacko

المصدر: Biomedical and Biotechnology Research Journal, Vol 6, Iss 1, Pp 117-121 (2022)

مصطلحات موضوعية: brca1, brca2, histopathology, immunohistochemistry, pathogenic mutation, variant of uncertain significance, Biotechnology, TP248.13-248.65

وصف الملف: electronic resource

العلاقة: http://www.bmbtrj.org/article.asp?issn=2588-9834;year=2022;volume=6;issue=1;spage=117;epage=121;aulast=IssacTest; https://doaj.org/toc/2588-9834Test; https://doaj.org/toc/2588-9842Test

الوصول الحر: https://doaj.org/article/52bb6ce1773544feb3e823f232f5e3cdTest

المؤلفون: J. Francis Borgio

المصدر: Archives of Medical Science, Vol 19, Iss 3, Pp 765-783 (2021)

مصطلحات موضوعية: arab world, mendelian genes, intellectual disability, medical genetics, genetic disorders, pathogenic mutation, exome, Medicine

وصف الملف: electronic resource

العلاقة: https://www.archivesofmedicalscience.com/Heterogeneity-in-biomarkers-mitogenome-and-genetic-disorders-of-the-Arab-population,145370,0,2.htmlTest; https://doaj.org/toc/1734-1922Test; https://doaj.org/toc/1896-9151Test

الوصول الحر: https://doaj.org/article/12b7f0225aa941a4ad285440822894a1Test

المؤلفون: Liqing Zhao, Suqiu Huang, Wei Wei, Bingyao Zhang, Wenxiang Shi, Yongzhou Liang, Rang Xu, Yurong Wu

المصدر: Frontiers in Pediatrics, Vol 10 (2022)

مصطلحات موضوعية: primary ciliary dyskinesia, CCDC40, situs inversus, annular pancreas, pathogenic mutation, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2022.996332/fullTest; https://doaj.org/toc/2296-2360Test

الوصول الحر: https://doaj.org/article/f15a648ab5824a7e9007f5dd623db401Test

المؤلفون: Qiaoling Song, Yuchao Zhang, Minghui Zhang, Xiaoli Ma, Qianyue Zhang, Chenyang Zhao, Zhongwen Zhang, Huichen Zhao, Wenchao Hu, Xinxin Zhang, Xiwen Ren, Ming An, Jinbo Yang, Yuantao Liu

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: diabetic retinopathy, exome sequencing, rare variants, pathogenic mutation, RNA-seq analysis, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.929049/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/d847bd8c21664da6a6c72c4966d09323Test