Search

Author/Creator Reinson, Karit

1. Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content. (23rd March 2020)

Authors:
Woldegebriel, Rosa; Kvist, Jouni; Andersson, Noora; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H; Bijlsma, Emilia K; Hoffer, Mariëtte J V; Ryan, Monique M; Stark, Zornitza; Walsh, Maie; Cuppen, Inge; van den Boogaard, Marie-Jose´ H; Bharucha-Goebel, Diana; Donkervoort, Sandra; Winchester, Sara...
Journal:
Human molecular genetics
Issue:
Volume 29:Number 9(2020)
Page Start:
1426
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy. Issue 8 (2nd June 2016)

Authors:
Reinson, Karit; Õiglane‐Shlik, Eve; Talvik, Inga; Vaher, Ulvi; Õunapuu, Anne; Ennok, Margus; Teek, Rita; Pajusalu, Sander; Murumets, Ülle; Tomberg, Tiiu; Puusepp, Sanna; Piirsoo, Andres; Reimand, Tiia; Õunap, Katrin
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 8(2016)
Page Start:
2173
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗