Concepedia

Emuna Paz‐Ebstein

EP

Statistics

Publications

2

Citations

31

H-Index

2

Active since

2021

Affiliations

Hadassah Medical Center(Current)

Hebrew University of Jerusalem

Emuna Paz‐Ebstein is an author at Hadassah Medical Center specializing in non-homologous end joining defects, reading frame preservation, and movement disorder genetics.

Publications per year

2021–2023

2

Publications

2

Levodopa-responsive dystonia caused by biallelic <i>PRKN</i> exon inversion invisible to exome sequencing

Hagar Mor‐Shaked, Emuna Paz‐Ebstein, Adily Basal et al. · Brain Communications · 2021 · 18 citations · Full text

, , +13

A recurrent de novo variant in <scp> <i>NUSAP1</i> </scp> escapes nonsense‐mediated decay and leads to microcephaly, epilepsy, and developmental delay

Alisa Mo, Emuna Paz‐Ebstein, Shira Yanovsky‐Dagan et al. · Clinical Genetics · 2023 · 13 citations · Full text

, , +17

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