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Author/Creator Lee, Crystle

1. Distinct diagnostic trajectories in NBAS‐associated acute liver failure highlights the need for timely functional studies. Issue 3 (15th March 2022)

Authors:
Akesson, Lauren S.; Rius, Rocio; Brown, Natasha J.; Rosenbaum, Jeremy; Donoghue, Sarah; Stormon, Michael; Chai, Charmaine; Bordador, Esmeralda; Guo, Yiran; Hakonarson, Hakon; Compton, Alison G.; Thorburn, David R.; Amarasekera, Sumudu; Marum, Justine; Monaco, Alisha; Lee, Crystle; Chong, Belinda;...
Journal:
JIMD reports
Issue:
Volume 63:Issue 3(2022)
Page Start:
240
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate. Issue 11 (9th September 2020)

Authors:
Akesson, Lauren S.; Bournazos, Adam; Fennell, Andrew; Krzesinski, Emma I.; Tan, Kenneth; Springer, Amanda; Rose, Katherine; Goranitis, Ilias; Francis, David; Lee, Crystle; Faiz, Fathimath; Davis, Mark R.; Christodoulou, John; Lunke, Sebastian; Stark, Zornitza; Hunter, Matthew F.; Cooper, Sandra T.
Journal:
Human mutation
Issue:
Volume 41:Issue 11(2020)
Page Start:
1884
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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