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1دورية أكاديمية
المؤلفون: Li, Taolin, Huang, Yonglan, Tao, Chunyan, Yin, Xi, Su, Xueying, Shao, Yongxian, Liang, Cuili, Jiang, Minyan, Cai, Yanna, Lin, Yunting, Zeng, Chunhua, Zhao, Xiaoyuan, Liu, LiAff1, IDs11011024013481_cor13, Zhang, WenAff1, IDs11011024013481_cor14
المصدر: Metabolic Brain Disease. :1-10
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2دورية أكاديمية
المؤلفون: Aykut, AycaAff1, IDs12026024094776_cor1, Durmaz, Asude, Karaca, Neslihan, Gulez, Nesrin, Genel, Ferah, Celmeli, Fatih, Cogurlu, M. Tuba, Akcan, Mediha, Cicek, Dilek, Cipe, Funda Erol, Kiykim, Ayca, Yıldıran, Alisan, Unluhizarci, Kursad, Kilic, Sara Sebnem, Aksu, Guzide, Ardeniz, Omur, Kutukculer, Necil
المصدر: Immunologic Research. :1-13
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3دورية أكاديمية
المؤلفون: Koca, OguzhanAff1, IDs1373002300845z_cor1, Alay, Mustafa Tarık, Murt, Ahmet, Kalayci Yigin, Aysel, Seven, Mehmet, Bavunoglu, Isil
المصدر: CEN Case Reports: Official Publication of the Japanese Society of Nephrology. :1-9
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4دورية أكاديمية
المصدر: The Application of Clinical Genetics, Vol Volume 17, Pp 71-84 (2024)
مصطلحات موضوعية: charcot-marie-tooth disease, mtmr2 gene, novel mutation, homozygous, whole exome sequencing, Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://www.dovepress.com/identification-of-a-novel-homozygous-mutation-in-mtmr2-gene-causes-ver-peer-reviewed-fulltext-article-TACG; https://doaj.org/toc/1178-704X
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5دورية أكاديمية
المؤلفون: Kaplan, MuratAff1, IDs13337023008467_cor1, Özan, EmreAff2, IDs13337023008467_cor2, Pekmez, Kemal, Çağırgan, Abdurrahman Anıl, Arslan, Fatih
المصدر: VirusDisease. 34(4):539-549
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6دورية أكاديمية
المؤلفون: Yari, Abolfazl, Vafaeie, Farzane, Karam, Zahra MiriAff2, Aff3, Hosseini, MahyaAff4, IDs1201702308757y_cor4, Hashemzade, Hassan, Rahimi, Maryam Sadat, Ehsanbakhsh, Alireza, Miri-Moghaddam, EbrahimAff8, IDs1201702308757y_cor8
المصدر: NeuroMolecular Medicine. 25(4):563-572
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7دورية أكاديمية
المؤلفون: Maher Almousa, Mohammad Aljomaa, Shekhey Hamey, Diana Alasmar
المصدر: Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-4 (2024)
مصطلحات موضوعية: Fructose-1,6-bisphosphatase deficiency, Gluconeogenesis, FBP1 gene, Novel mutation, Arab population, Case report, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1752-1947
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8دورية أكاديمية
المؤلفون: Lili Cao, Xiuxin Ling, Jianguo Yan, Danni Feng, Yi Dong, Zhiqiang Xu, Fuchuan Wang, Shishu Zhu, Yinjie Gao, Zhenhua Cao, Min Zhang
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
مصطلحات موضوعية: MDR3/ABCB4 gene, Novel mutation, Liver pathology, Cholestatic liver disease, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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9دورية أكاديمية
المؤلفون: Kumari Pritti, Vineet Mishra, Somesh Aggarwal, Mehul Mistri, Manisha Chhetry
المصدر: Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-5 (2024)
مصطلحات موضوعية: Anterior segment dysgenesis, Novel mutation, Peters anomaly, Variants of uncertain significance, Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2090-2441
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10دورية أكاديمية
المؤلفون: Weili Liu, Jie Zhang, Jian Li, Shuai Jia, Yanqiang Wang, Jianhong Geng, Yaozhen Wang
المصدر: BMC Neurology, Vol 24, Iss 1, Pp 1-5 (2024)
مصطلحات موضوعية: CADASIL, Acute bilateral subcortical infarcts, NOTCH3 gene, Novel mutation, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1471-2377