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Author/Creator Yang, Amy C.

1. ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Issue 7 (21st March 2016)

Authors:
Ng, Bobby G.; Shiryaev, Sergey A.; Rymen, Daisy; Eklund, Erik A.; Raymond, Kimiyo; Kircher, Martin; Abdenur, Jose E.; Alehan, Fusun; Midro, Alina T.; Bamshad, Michael J.; Barone, Rita; Berry, Gerard T.; Brumbaugh, Jane E.; Buckingham, Kati J.; Clarkson, Katie; Cole, F. Sessions; O'Connor, Shawn; ...
Journal:
Human mutation
Issue:
Volume 37:Issue 7(2016)
Page Start:
653
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion‐mediated deafness‐infertility syndrome. Issue 5 (20th March 2017)

Authors:
Karger, Lisa; Khan, Wahab A.; Calabio, Rafaela; Singh, Ram; Xiang, Bixia; Babu, Arvind; Cohen, Ninette; Yang, Amy C.; Scott, Stuart A.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 5(2017)
Page Start:
1436
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗