Search

Author/Creator Martin, George M.

12. Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases. Issue 11 (9th May 2022)

Authors:
Miller, Danny E.; Lee, Lin; Galey, Miranda; Kandhaya-Pillai, Renuka; Tischkowitz, Marc; Amalnath, Deepak; Vithlani, Avadh; Yokote, Koutaro; Kato, Hisaya; Maezawa, Yoshiro; Takada-Watanabe, Aki; Takemoto, Minoru; Martin, George M.; Eichler, Evan E.; Hisama, Fuki M.; Oshima, Junko
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 11(2022)
Page Start:
1087
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

14. WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects. Issue 1 (7th October 2016)

Authors:
Yokote, Koutaro; Chanprasert, Sirisak; Lee, Lin; Eirich, Katharina; Takemoto, Minoru; Watanabe, Aki; Koizumi, Naoko; Lessel, Davor; Mori, Takayasu; Hisama, Fuki M.; Ladd, Paula D.; Angle, Brad; Baris, Hagit; Cefle, Kivanc; Palanduz, Sukru; Ozturk, Sukru; Chateau, Antoinette; Deguchi, Kentaro; Eas...
Journal:
Human mutation
Issue:
Volume 38:Issue 1(2017)
Page Start:
7
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗