Search

Author/Creator Dyer, Lisa

2. Alu element insertion in PKLR gene as a novel cause of pyruvate kinase deficiency in Middle Eastern patients. Issue 3 (11th January 2018)

Authors:
Lesmana, Harry; Dyer, Lisa; Li, Xia; Denton, James; Griffiths, Jenna; Chonat, Satheesh; Seu, Katie G.; Heeney, Matthew M.; Zhang, Kejian; Hopkin, Robert J.; Kalfa, Theodosia A.
Journal:
Human mutation
Issue:
Volume 39:Issue 3(2018)
Page Start:
389
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Confirmatory testing illustrates additional risks for structural sex chromosome abnormalities in fetuses with a non‐invasive prenatal screen positive for monosomy X. Issue 2 (1st June 2020)

Authors:
Sund, Kristen L.; Khattar, Divya; Boomer, Theresa; Caldwell, Samantha; Dyer, Lisa; Hopkin, Robert J.; Smolarek, Teresa A.
Other Names:
Gravholt Claus H. guestEditor.; Tartaglia Nicole guestEditor.; Disteche Christine guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 184:Issue 2(2020)
Page Start:
294
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗