يعرض 1 - 10 نتائج من 346 نتيجة بحث عن '"neurofibromatosis type 1(nf1)"', وقت الاستعلام: 1.21s تنقيح النتائج
  1. 1
    كتاب إلكتروني
    Neurocutaneous Syndromes

    المؤلفون: Ta’ef Mohammed, ▪Aff3, Khudher, Zaher OdaiAff3

    المساهمون: AlAli, Khaled Fares, editorAff1, Hashim, Hashim Talib, editorAff2

    المصدر: Congenital Brain Malformations : Clinical and Surgical Aspects. :159-173

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  2. 2
    دورية أكاديمية
    RRM2 as a novel prognostic and therapeutic target of NF1-associated MPNST

    المؤلفون: Chung, Man-Hon, Aimaier, Rehanguli, Yu, Qingxiong, Li, Haibo, Li, Yuehua, Wei, Chengjiang, Gu, Yihui, Wang, Wei, Guo, Zizhen, Long, Manmei, Li, QingfengAff1, IDs13402023008194_cor11, Wang, ZhichaoAff1, IDs13402023008194_cor12

    المصدر: Cellular Oncology. 46(5):1399-1413

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  3. 3
    دورية أكاديمية
    Aberrant oscillatory activity in neurofibromatosis type 1: an EEG study of resting state and working memory

    المؤلفون: Booth, Samantha J., Garg, ShrutiAff2, Aff3, Brown, Laura J. E., Green, JonathanAff2, Aff3, Pobric, Gorana, Taylor, Jason R.Aff1, IDs1168902309492y_cor6

    المصدر: Journal of Neurodevelopmental Disorders. 15(1)

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  4. 4
    دورية أكاديمية
    Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42) of the NF1 gene in a Chinese family with neurofibromatosis type 1

    المؤلفون: Yang, LishaAff1, Aff2, Aff3, Fu, Jiewen, Cheng, JingliangAff1, Aff2, Zhou, BaixuAff2, Aff4, Chen, Maomei, Anuchapreeda, SongyotAff1, Aff5, IDs1292002301514x_cor6, Fu, JunjiangAff1, Aff2, IDs1292002301514x_cor7

    المصدر: BMC Medical Genomics. 16(1)

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  5. 5
    دورية أكاديمية
    Endocrine and non-endocrine causes of fatigue in adults with Neurofibromatosis type 1

    المؤلفون: Anna G. W. Rosenberg, Ké Mochèl, Lorena M. Hähner, Lara Ruules, Kirsten Davidse, Anja G. Bos-Roubos, Sarah A. van Dijk, M. Carola Zillikens, Walter Taal, Aart J. van der Lely, Laura C. G. de Graaff

    المصدر: Frontiers in Endocrinology, Vol 14 (2024)

    مصطلحات موضوعية: Neurofibromatosis type 1 (NF1), fatigue, adult, internal medicine, endocrinology, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

    وصف الملف: electronic resource

    Relation: https://www.frontiersin.org/articles/10.3389/fendo.2023.1119159/full; https://doaj.org/toc/1664-2392

    URL الوصول: https://doaj.org/article/c905e2f7b0944724b698c3897f073159

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  6. 6
    كتاب إلكتروني
    Neurofibromatosis

    المؤلفون: Malekian, SinaAff3

    المساهمون: Sarwark, John F., editorAff1, Carl, Rebecca L., editorAff2

    المصدر: Orthopaedics for the Newborn and Young Child : A Practical Clinical Guide. :503-512

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  7. 7
    دورية أكاديمية
    Aberrant oscillatory activity in neurofibromatosis type 1: an EEG study of resting state and working memory

    المؤلفون: Samantha J. Booth, Shruti Garg, Laura J. E. Brown, Jonathan Green, Gorana Pobric, Jason R. Taylor

    المصدر: Journal of Neurodevelopmental Disorders, Vol 15, Iss 1, Pp 1-18 (2023)

    مصطلحات موضوعية: Electroencephalography (EEG), Neurofibromatosis type 1 (NF1), Oscillations, Oscillatory power, Phase coherence, Working memory, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/1866-1955

    URL الوصول: https://doaj.org/article/79b0313aef65495fae8be475416c5231

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  8. 8
    دورية أكاديمية
    Genetic Profiling and Genome-Scale Dropout Screening to Identify Therapeutic Targets in Mouse Models of Malignant Peripheral Nerve Sheath Tumor

    المؤلفون: Brittany Turner-Ivey, author1, Jody Fromm Longo, author2, Dorea P. Jenkins, author2, Stephen T. Guest, author3, Steven L. Carroll, author1, 2

    المصدر: Journal of Visualized Experiments. (198)

    الإتاحة: http://www.jove.com/video/65430

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  9. 9
    دورية أكاديمية
    Novel, heterozygous, pathogenic variant (c.4272delA: p.I1426Ffs*2) for the NF1 gene in a large Chinese family with neurofibromatosis type 1

    المؤلفون: Yang, LishaAff1, Aff2, Aff3, Fu, Jiewen, Cheng, JingliangAff1, Aff3, Zhou, BaixuAff1, Aff4, Liu, Xiaoyan, Anuchapreeda, SongyotAff3, Aff5, IDs11033022080964_cor6, Fu, JunjiangAff1, Aff3, IDs11033022080964_cor7

    المصدر: Molecular Biology Reports: An International Journal on Molecular and Cellular Biology. 50(2):1117-1123

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  10. 10
    دورية أكاديمية
    Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42) of the NF1 gene in a Chinese family with neurofibromatosis type 1

    المؤلفون: Lisha Yang, Jiewen Fu, Jingliang Cheng, Baixu Zhou, Maomei Chen, Songyot Anuchapreeda, Junjiang Fu

    المصدر: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-9 (2023)

    مصطلحات موضوعية: Neurofibromatosis type 1 (NF1), Whole exome-sequencing (WES), Short tandem repeat, De novo pathogenic variant, Frameshift, Internal medicine, RC31-1245, Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/1755-8794

    URL الوصول: https://doaj.org/article/a3df7f3d57c640eca5e79f190f45a2b0

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