Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
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چکیده
منابع مشابه
interpersonal function of language in subtitling
translation as a comunicative process is always said to be associated with various aspects of meaning loss or gain. subtitling as a mode of translating, due to special discoursal and textual conditions imposed upon it, is believed to be an obvious case of this loss or gain. presenting the spoken sound track of a film in writing and synchronizing the perception of this text by the viewers with...
15 صفحه اولDLL4 loss-of-function heterozygous mutations cause Adams-Oliver syndrome.
1. Snape KM, Ruddy D, Zenker M et al. The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. Am J Med Genet A 2009: 149A (8): 1860–1881. 2. Hassed SJ, Wiley GB, Wang S et al. RBPJ mutations identified in two families affected by Adams-Oliver syndrome. Am J Hum Genet 2012: 91 (2): 391–395. 3. Southgate L, Sukalo M, Karountzos AS et al. Haploinsufficie...
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ژورنال
عنوان ژورنال: Nature Communications
سال: 2021
ISSN: 2041-1723
DOI: 10.1038/s41467-021-22627-w