有灵感
发表于 2025-3-21 17:47:44
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Classify
发表于 2025-3-21 21:50:31
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入会
发表于 2025-3-22 03:58:09
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archenemy
发表于 2025-3-22 07:08:47
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魔鬼在游行
发表于 2025-3-22 09:29:24
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刺激
发表于 2025-3-22 13:04:53
Characterization of Variegate Porphyria Mutations Using a Minigene Approach,pping; therefore, the abnormal mRNAs are most likely degraded by a mechanism such as nonsense-mediated decay. In conclusion, these mutations are responsible for the disease because they alter the normal splicing pathway, thus providing a functional explanation for the appearance of disease and highl
诱使
发表于 2025-3-22 17:13:18
Homozygous Truncating Intragenic Duplication in , Responsible for Rare Autosomal Recessive Nonsyndrwed normal N-glycan synthesis and transfer. We present a review of the 19 patients previously described in the literature and report on a sixth consanguineous family including two affected sibs, with intellectual disability, unspecific dysmorphic features, and no additional malformations identified
沉着
发表于 2025-3-23 00:08:54
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convulsion
发表于 2025-3-23 02:46:56
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DIS
发表于 2025-3-23 09:19:53
Psychological Health in Adults with Morquio Syndrome,ymptoms. Overall, subjects scored below the US mean only in physical health QOL (. < 0.001) on the SF-36, not mental health QOL. Implications of this study include the need for greater attention to psychological health in persons with Morquio syndrome, including regular assessment for psychological