Lv01
0 积分 2025-09-15 加入
A novel nonsense mutation in PPP2R5D is associated with neurodevelopmental disorders and shows incomplete penetrance in a Chinese pedigree
2小时前
已完结
Deletion of 11q12.3–11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome
2小时前
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The epilepsy–autism phenotype associated with developmental and epileptic encephalopathies: New mechanism‐based therapeutic options
11天前
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THE STRUCTURE AND REGULATION OF PROTEIN PHOSPHATASES
1个月前
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The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth
1个月前
已完结
Diagnostic approach to microcephaly in childhood: a two‐center study and review of the literature
1个月前
已完结
Second‐trimester fetal head circumference in more than 350 000 pregnancies: Outcome and suggestion for sex‐dependent cutoffs for small heads
1个月前
已完结
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