Familial inheritance of the 3q29 microdeletion syndrome: case report and review

by Wahab A. Khan, Ninette Cohen, Stuart A. Scott, Elaine M. Pereira
Published 2019-03-01

Clinical Course of a Unique Case of Allgrove Syndrome and Challenges of Hypoglycemia Management

by Chang Lu, MD, Ting A. Lee, MD, Debra H. Pan, MD, Elaine M. Pereira, MD, Ping Zhou, MD
Published 2019-11-01

Dominant mutations in ITPR3 cause Charcot‐Marie‐Tooth disease

by Julius Rönkkö, Svetlana Molchanova, Anya Revah‐Politi, Elaine M. Pereira, Mari Auranen, Jussi Toppila, Jouni Kvist, Anastasia Ludwig, Julika Neumann, Geert Bultynck, Stéphanie Humblet‐Baron, Adrian Liston, Anders Paetau, Claudio Rivera, Matthew B. Harms, Henna Tyynismaa, Emil Ylikallio
Published 2020-10-01