Search

Author/Creator Ewans, Lisa J.

1. Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability. Issue 7 (3rd May 2021)

Authors:
Field, Michael J.; Kumar, Raman; Hackett, Anna; Kayumi, Sayaka; Shoubridge, Cheryl A.; Ewans, Lisa J.; Ivancevic, Atma M.; Dudding‐Byth, Tracy; Carroll, Renée; Kroes, Thessa; Gardner, Alison E.; Sullivan, Patricia; Ha, Thuong T.; Schwartz, Charles E.; Cowley, Mark J.; Dinger, Marcel E.; Palmer, E...
Journal:
Human mutation
Issue:
Volume 42:Issue 7(2021)
Page Start:
835
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. Issue 2 (3rd December 2019)

Authors:
Bryen, Samantha J.; Ewans, Lisa J.; Pinner, Jason; MacLennan, Suzanna C.; Donkervoort, Sandra; Castro, Diana; Töpf, Ana; O'Grady, Gina; Cummings, Beryl; Chao, Katherine R.; Weisburd, Ben; Francioli, Laurent; Faiz, Fathimath; Bournazos, Adam M.; Hu, Ying; Grosmann, Carla; Malicki, Denise M.; Doyle...
Journal:
Human mutation
Issue:
Volume 41:Issue 2(2020)
Page Start:
403
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

Limit your search