Search

Author/Creator Humphreys, Peter

1. Aberrant methylation of tRNAs links cellular stress to neuro‐developmental disorders. (25th July 2014)

Authors:
Blanco, Sandra; Dietmann, Sabine; Flores, Joana V; Hussain, Shobbir; Kutter, Claudia; Humphreys, Peter; Lukk, Margus; Lombard, Patrick; Treps, Lucas; Popis, Martyna; Kellner, Stefanie; Hölter, Sabine M; Garrett, Lillian; Wurst, Wolfgang; Becker, Lore; Klopstock, Thomas; Fuchs, Helmut; Gailus‐Durn...
Journal:
EMBO journal
Issue:
Volume 33:Number 18(2014)
Page Start:
2020
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Clinical delineation of GTPBP2‐associated neuro‐ectodermal syndrome: Report of two new families and review of the literature. Issue 5 (19th March 2019)

Authors:
Carter, Melissa T.; Venkateswaran, Sunita; Shapira‐Zaltsberg, Gali; Davila, Jorge; Humphreys, Peter; Kernohan, Kristin D.; Boycott, Kym M.
Journal:
Clinical genetics
Issue:
Volume 95:Issue 5(2019)
Page Start:
601
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl–Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl–Transfer RNA Synthetase Mutations in Human Disease. (July 2015)

Authors:
McMillan, Hugh J.; Humphreys, Peter; Smith, Amanda; Schwartzentruber, Jeremy; Chakraborty, Pranesh; Bulman, Dennis E.; Beaulieu, Chandree L.; Majewski, Jacek; Boycott, Kym M.; Geraghty, Michael T.
Journal:
Journal of child neurology
Issue:
Volume 30:Number 8(2015:Jul.)
Page Start:
1037
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗