Search

Author/Creator Marin-Valencia, Isaac

1. A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features. Issue 1 (16th June 2017)

Authors:
Marin-Valencia, Isaac; Novarino, Gaia; Johansen, Anide; Rosti, Basak; Issa, Mahmoud Y; Musaev, Damir; Bhat, Gifty; Scott, Eric; Silhavy, Jennifer L; Stanley, Valentina; Rosti, Rasim O; Gleeson, Jeremy W; Imam, Farhad B; Zaki, Maha S; Gleeson, Joseph G
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 1(2018)
Page Start:
48
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. Issue 6 (9th March 2017)

Authors:
Rosti, Rasim Ozgur; Sotak, Bethany N; Bielas, Stephanie L; Bhat, Gifty; Silhavy, Jennifer L; Aslanger, Ayca Dilruba; Altunoglu, Umut; Bilge, Ilmay; Tasdemir, Mehmet; Yzaguirrem, Amanda D; Musaev, Damir; Infante, Sofia; Thuong, Whitney; Marin-Valencia, Isaac; Nelson, Stanley F; Kayserili, Hulya; G...
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 6(2017)
Page Start:
399
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗