Search

Author/Creator Shore, Eileen M.

3. An ACVR1R375P pathogenic variant in two families with mild fibrodysplasia ossificans progressiva. Issue 3 (2nd December 2021)

Authors:
Kaplan, Frederick S.; Groppe, Jay C.; Xu, Meiqi; Towler, O. Will; Grunvald, Eduardo; Kalunian, Kenneth; Kallish, Staci; Al Mukaddam, Mona; Pignolo, Robert J.; Shore, Eileen M.
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 3(2022)
Page Start:
806
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Cover Image, Volume 179A, Number 7, July 2019. Issue 7 (10th June 2019)

Authors:
Gucev, Zoran; Tasic, Velibor; Plaseska‐Karanfilska, Dijana; Dimishkovska, Marija; Laban, Nevenka; Bozinovski, Zoran; Kostovski, Marko; Saveski, Alek; Polenakovic, Momir; Towler, O. Will; Shore, Eileen M.; Kaplan, Frederick S.
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 7(2019)
Page Start:
n/a
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

9. Functional Testing of Bone Morphogenetic Protein (BMP) Pathway Variants Identified on Whole‐Exome Sequencing in a Patient with Delayed‐Onset Fibrodysplasia Ossificans Progressiva (FOP) Using ACVR1R206H‐Specific Human Cellular and Zebrafish Models. (15th November 2022)

Authors:
Wentworth, Kelly L.; Lalonde, Robert L.; Groppe, Jay C.; Brewer, Niambi; Moody, Tania; Hansberry, Steven; Taylor, Kimberly E.; Shore, Eileen M.; Kaplan, Frederick S.; Pignolo, Robert J.; Yelick, Pamela C.; Hsiao, Edward C.
Journal:
Journal of bone and mineral research
Issue:
Volume 37:Number 11(2022)
Page Start:
2058
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗