Search

Author/Creator Magoulas, Pilar

2. Clinical and molecular characterization of de novo loss of function variants in HNRNPU. Issue 10 (16th August 2017)

Authors:
Leduc, Magalie S.; Chao, Hsiao‐Tuan; Qu, Chunjing; Walkiewicz, Magdalena; Xiao, Rui; Magoulas, Pilar; Pan, Shujuan; Beuten, Joke; He, Weimin; Bernstein, Jonathan A.; Schaaf, Christian P.; Scaglia, Fernando; Eng, Christine M.; Yang, Yaping
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 10(2017)
Page Start:
2680
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Issue 3 (19th December 2019)

Authors:
Assia Batzir, Nurit; Kishor Bhagwat, Pranjali; Larson, Austin; Coban Akdemir, Zeynep; Bagłaj, Maciej; Bofferding, Leon; Bosanko, Katherine B.; Bouassida, Skander; Callewaert, Bert; Cannon, Ashley; Enchautegui Colon, Yazmin; Garnica, Adolfo D.; Harr, Margaret H.; Heck, Sandra; Hurst, Anna C. E.; J...
Journal:
Human mutation
Issue:
Volume 41:Issue 3(2020)
Page Start:
641
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Review of the phenotypic spectrum associated with haploinsufficiency of MYRF. Issue 7 (8th May 2019)

Authors:
Rossetti, Linda Z.; Glinton, Kevin; Yuan, Bo; Liu, Pengfei; Pillai, Nishitha; Mizerik, Elizabeth; Magoulas, Pilar; Rosenfeld, Jill A.; Karaviti, Lefkothea; Sutton, Vernon R.; Lalani, Seema R.; Scott, Daryl A.
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 7(2019)
Page Start:
1376
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. The sixth international RASopathies symposium: Precision medicine—From promise to practice. Issue 3 (11th December 2019)

Authors:
Gripp, Karen W.; Schill, Lisa; Schoyer, Lisa; Stronach, Beth; Bennett, Anton M.; Blaser, Susan; Brown, Amanda; Burdine, Rebecca; Burkitt‐Wright, Emma; Castel, Pau; Darilek, Sandra; Dias, Alwyn; Dyer, Tuesdi; Ellis, Michelle; Erickson, Gregg; Gelb, Bruce D.; Green, Tamar; Gross, Andrea; Ho, Alan; ...
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 3(2020)
Page Start:
597
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗