Suchergebnisse - "Paz-Ebstein, Emuna"

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

Levodopa-responsive dystonia caused by biallelic PRKN exon inversion invisible to exome sequencing

enthalten in: Brain communications | 2021

von Mor-Shaked, H. | Paz-Ebstein, E. | Basal, A. | +13

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