Search

Author/Creator Vanderver, Adeline L.

1. Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function. Issue 4 (14th January 2020)

Authors:
Rice, Gillian I.; Park, Sehoon; Gavazzi, Francesco; Adang, Laura A.; Ayuk, Loveline A.; Van Eyck, Lien; Seabra, Luis; Barrea, Christophe; Battini, Roberta; Belot, Alexandre; Berg, Stefan; Billette de Villemeur, Thierry; Bley, Annette E.; Blumkin, Lubov; Boespflug‐Tanguy, Odile; Briggs, Tracy A.; ...
Journal:
Human mutation
Issue:
Volume 41:Issue 4(2020)
Page Start:
837
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum. Issue 1 (8th December 2019)

Authors:
Mendes, Marisa I.; Green, Lydia M. C.; Bertini, Enrico; Tonduti, Davide; Aiello, Chiara; Smith, Desiree; Salsano, Ettore; Beerepoot, Shanice; Hertecant, Jozef; von Spiczak, Sarah; Livingston, John H.; Emrick, Lisa; Fraser, Jamie; Russell, Laura; Bernard, Genevieve; Magri, Stefania; Di Bella, Dani...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 7:Issue 1(2020)
Page Start:
83
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗