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Yukiko Kuroda,Koki Nagai,Yasuhiro Kawai et al. Yukiko Kuroda et al.
RNU4-2 encodes U4 small nuclear RNA (snRNA), a non-coding RNA forming the spliceosome complex via the U4/U6 snRNA duplex. RNU4-2 heterozygous variants cause ReNU syndrome, which is characterised by intellectual disability, developmental del...
Hongjun Fei,Xu Han,Yiyao Chen et al. Hongjun Fei et al.
Background: To identify the genetic variants underlying neurofibromatosis type 1 (NF1) and to investigate genotype-phenotype correlations. Methods: ...
Curtis A Lachowiez,Mael Heiblig,Gaspar Aspas Requena et al. Curtis A Lachowiez et al.
Resistance to venetoclax-based therapy in acute myeloid leukemia (AML) includes genetic (i.e., mutations in N/KRAS, FLT3-ITD, TP53) and phenotypic (i.e., monocytic differentiation) features. Whether monocytic differentiation contributes to ...
Susan M McAnallen,Elhussein A E Elhassan,Sinead Stoneman et al. Susan M McAnallen et al.
Background and hypothesis: Podocytopathy associated with likely pathogenic/pathogenic variants of TRPC6 (TRPC6-AP) has been recognised for about 20 years. As a result of its rarity however, the spectrum of clinical phenot...
Silje F Jørgensen,Peder R Braadland,Thor Ueland et al. Silje F Jørgensen et al.
Background: A large proportion of patients with common variable immunodeficiency (CVID) have autoimmune and inflammatory manifestations characterized by chronic T-cell- and monocyte/macrophage activation of unknown etiolo...
Hidehiro Toh,Wan Kin Au Yeung,Motoko Unoki et al. Hidehiro Toh et al.
The X-linked orange (O) locus in domestic cats controls an unknown molecular mechanism that causes the suppression of black-brownish pigmentation in favor of orange coloration. The alternating black-brownish and orange patches seen in torto...
Wenkai Guo,Yuansheng Xie,Pengcheng Ji et al. Wenkai Guo et al.
Fabry disease, a rare genetic disorder affecting multiple organs, has understudied correlations among enzyme activity, genotype, and clinical manifestations in patients of different sexes with classical and late-onset phenotypes. In this st...
Nupoor Narula,Yosef Schwartz,Richard B Devereux et al. Nupoor Narula et al.
Background: Mitral valve prolapse (MVP) is highly prevalent in Marfan syndrome (MFS), but its associations with significant valvular regurgitation, the need for mitral valve (MV) surgery or elective aortic root replacemen...
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