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Author/Creator BioResource, NIHR

1. A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets. Issue 1 (25th March 2019)

Authors:
Padmakumar, Manisha; Jaeken, Jaak; Ramaekers, Vincent; Lagae, Lieven; Greene, Daniel; Thys, Chantal; Van Geet, Chris; BioResource, NIHR; Stirrups, Kathleen; Downes, Kate; Turro, Ernest; Freson, Kathleen
Journal:
JIMD reports
Issue:
Volume 47:Issue 1(2019)
Page Start:
9
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Next‐generation sequencing for the diagnosis of MYH9‐RD: Predicting pathogenic variants. Issue 1 (15th October 2019)

Authors:
Bury, Loredana; Megy, Karyn; Stephens, Jonathan C.; Grassi, Luigi; Greene, Daniel; Gleadall, Nick; Althaus, Karina; Allsup, David; Bariana, Tadbir K.; Bonduel, Mariana; Butta, Nora V.; Collins, Peter; Curry, Nicola; Deevi, Sri V. V.; Downes, Kate; Duarte, Daniel; Elliott, Kim; Falcinelli, Emanuel...
Journal:
Human mutation
Issue:
Volume 41:Issue 1(2020)
Page Start:
277
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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