Suchergebnisse - "Shao, Diane D"

PubPharm (2)

1

A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay

enthalten in: Clinical genetics | 2023

von Mo, A. | Paz-Ebstein, E. | Yanovsky-Dagan, S. | +7

2

Unusual Behaviors in a 7-year-old Boy

enthalten in: Pediatrics in review | 2021

von Chang, L. | Shao, D. | Eichler, F. | +1

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