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Author/Creator Sasaki, Erina

1. An X‐linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene. Issue 2 (9th November 2020)

Authors:
Tripolszki, Kornelia; Sasaki, Erina; Hotakainen, Ronja; Kassim, Abdul Halim; Pereira, Catarina; Rolfs, Arndt; Bauer, Peter; Reardon, William; Bertoli‐Avella, Aida M.
Journal:
Clinical genetics
Issue:
Volume 99:Issue 2(2021)
Page Start:
303
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. HK1 haemolytic anaemia in association with a neurological phenotype and co‐existing CEP290 Meckel–Gruber in a Romani family. Issue 1 (16th September 2021)

Authors:
Sasaki, Erina; Phelan, Ethna; O'Regan, Mary; Kassim, Abdul Halim; Miletin, Jan; McMahon, Corrina; O'Sullivan, Maureen J.; Baptista, Julia; Lynch, Sally Ann
Journal:
Clinical genetics
Issue:
Volume 101:Issue 1(2022)
Page Start:
142
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗