يعرض 1 - 10 نتائج من 139 نتيجة بحث عن '"mosaic mutation"', وقت الاستعلام: 0.98s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Pedigree analysis exploring the inconsistency between diverse phenotypes and testing criteria for germline TP53 mutations in Chinese women with breast cancer

    المؤلفون: Huang, Xin, Chen, Chang, Lin, Yan, Wang, Changjun, Zhou, Xingtong, Xu, Ying, Sun, Qiang, Zhou, YidongAff1, IDs10549024073417_cor8

    المصدر: Breast Cancer Research and Treatment. 206(3):653-666

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  2. 2
    دورية أكاديمية
    Effects of centrifugation treatment before electroporation on gene editing in pig embryos

    المؤلفون: Liu, BinAff1, Aff2, Wittayarat, Manita, Takebayashi, KokiAff1, Aff2, Lin, QingyiAff1, Aff2, Torigoe, NanakaAff1, Aff2, Namula, ZhaoAff1, Aff4, Hirata, MakiAff1, Aff2, Nagahara, MegumiAff1, Aff2, Tanihara, Fuminori, Otoi, TakeshigeAff1, Aff2, Aff5, IDs1162602400926y_cor10

    المصدر: In Vitro Cellular & Developmental Biology - Animal. 60(7):732-739

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  3. 3
    دورية أكاديمية
    Sporadic gastric juvenile polyposis with a novel SMAD4 nonsense mutation in a mosaic pattern

    المؤلفون: Matsuyama, ShoAff1, Aff2, IDs1232802301884w_cor1, Fukuda, Akihisa, Matsumoto, Atsushi, Eguchi, Hidetaka, Ueo, Taro, Ohana, Masaya, Seno, Hiroshi

    المصدر: Clinical Journal of Gastroenterology. 17(1):23-28

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  4. 4
    دورية أكاديمية
    Efficacy of canakinumab on AA amyloidosis in late-onset NLRP3-associated autoinflammatory disease with an I574F somatic mosaic mutation

    المؤلفون: Itamiya, Takahiro, Komai, ToshihikoAff1, IDs10067022061301_cor2, Kanda, HirokoAff1, Aff2, Nagafuchi, YasuoAff1, Aff3, Chang, Hyangri, Shibata, ShotaAff5, Aff6, Ishiura, HiroyukiAff4, Aff6, Shoda, Hirofumi, Toda, TatsushiAff4, Aff6, Fujio, Keishi

    المصدر: Clinical Rheumatology: Journal of the International League of Associations for Rheumatology. 41(7):2233-2237

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  5. 5
    دورية أكاديمية
    Superimposition of checkerboard distribution of ephelides and neurofibromas in a patient with segmental neurofibromatosis

    المؤلفون: Hisato Iriki, MD, PhD, Noriko Umegaki-Arao, MD, PhD, Risa Kakuta, MD, PhD, Harumi Fujita, PhD, Satomi Aoki, Masayuki Amagai, MD, PhD, Takashi Sasaki, PhD, Yasuo Hamamoto, MD, PhD, Robert Nakayama, MD, PhD, Akiharu Kubo, MD, PhD

    المصدر: JAAD Case Reports, Vol 25, Iss , Pp 89-92 (2022)

    مصطلحات موضوعية: checkerboard pattern, mosaic mutation, prenatal somatic mutation, segmental neurofibromatosis, Dermatology, RL1-803

    وصف الملف: electronic resource

    Relation: http://www.sciencedirect.com/science/article/pii/S2352512622002375; https://doaj.org/toc/2352-5126

    URL الوصول: https://doaj.org/article/6545edb8676945d5a3359f55b8767f6e

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  6. 6
    دورية أكاديمية
    First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria

    المؤلفون: Adrian Belosevic, Anna-Elisabeth Minder, Morgan Gueuning, Franziska van Breemen, Gian Andri Thun, Maja P. Mattle-Greminger, Stefan Meyer, Alessandra Baumer, Elisabeth I. Minder, Xiaoye Schneider-Yin, Jasmin Barman-Aksözen

    المصدر: Life, Vol 13, Iss 9, p 1889 (2023)

    مصطلحات موضوعية: acute porphyrias, acute intermittent porphyria, de novo mutation, mosaic mutation, nanopore sequencing, Science

    وصف الملف: electronic resource

    Relation: https://www.mdpi.com/2075-1729/13/9/1889; https://doaj.org/toc/2075-1729

    URL الوصول: https://doaj.org/article/1aa2f4fc9c104c9db505d8c902b9f107

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  7. 7
    دورية أكاديمية

    لا يتم عرض هذه النتيجة على الضيوف.

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  8. 8
    دورية أكاديمية
    TSC2 somatic mosaic mutation, including extra-tumor tissue, may be the developmental cause of solitary subependymal giant cell astrocytoma

    المؤلفون: Sasaki, Tsuyoshi, Uda, TakehiroAff1, IDs0038102105399y_cor2, Kuki, Ichiro, Kunihiro, Noritsugu, Okazaki, Shin, Niida, Yo, Goto, Takeo

    المصدر: Child's Nervous System. 38(1):77-83

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  9. 9
    Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene

    المؤلفون: Meinert, Monika, Englund, Elisabet, Hedberg-Oldfors, Carola, Oldfors, Anders, Kornhall, Björn, Lundin, Catarina, Wittström, Elisabeth

    المصدر: Ophthalmic Genetics MultiPark: Multidisciplinary research focused on Parkinson´s disease. 40(3):227-236

    مصطلحات موضوعية: Danon disease, hypertrophic cardiomyopathy, mosaic mutation in LAMP2, peripheral pigmentary retinal dystrophy, Medicin och hälsovetenskap, Klinisk medicin, Oftalmologi, Medical and Health Sciences, Clinical Medicine, Ophthalmology

    URL الوصول: https://lup.lub.lu.se/record/47d1c0f2-34c7-44c4-906e-591894f2b4b8
    http://dx.doi.org/10.1080/13816810.2019.1627464

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  10. 10
    كتاب إلكتروني
    Analysis of Cell and Nucleus Genome by Next-Generation Sequencing

    المؤلفون: Oh, Ji WonAff4, Aff5, Abyzov, AlexejAff6

    المساهمون: Iourov, Ivan, editorAff1, Vorsanova, Svetlana, editorAff2, Yurov, Yuri, editorAff3

    المصدر: Human Interphase Chromosomes : Biomedical Aspects. :35-65

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