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本文报道1例因DEAH-box RNA解旋酶37(DHX37)先天性缺陷导致46,XY部分型性腺发育不良。收集并分析总结1例因“外生殖器模糊不清”于2......
Dysregulation of ribosome biogenesis causes human diseases, such as Diamond-Blackfan anemia, 5q minus syndrome and bone ......
Objectives: Diamond Blackfan anemia (DBA) is an inherited bone marrow failure syndrome (IBMFS) that is characterized by ......
Hepatocytes are responsible for diverse metabolic activities in a liver.Proper ribosome biogenesis is essential to susta......
A Zebrafish Model of 5q-Syndrome Using CRISPR/Cas9 Targeting RPS14 Reveals a p53-Independent and p53
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