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Author/Creator Geist, Janelle

1. Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis. Issue 8 (5th May 2019)

Authors:
Shashi, Vandana; Geist, Janelle; Lee, Youngha; Yoo, Yongjin; Shin, Unbeom; Schoch, Kelly; Sullivan, Jennifer; Stong, Nicholas; Smith, Edward; Jasien, Joan; Kranz, Peter; Lee, Yoonsung; Shin, Yong Beom; Wright, Nathan T.; Choi, Murim; Kontrogianni‐Konstantopoulos, Aikaterini
Other Names:
Acosta Maria T. investigator.; Adams David R. investigator.; Aday Aaron investigator.; Alejandro Mercedes E. investigator.; Allard Patrick investigator.; Ashley Euan A. investigator.; Azamian Mahshid S. investigator.; Bacino Carlos A. investigator.; Bademci Guney investigator.; Baker Eva investig...
Journal:
Human mutation
Issue:
Volume 40:Issue 8(2019)
Page Start:
1115
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy. Issue 1 (17th May 2019)

Authors:
Stavusis, Janis; Lace, Baiba; Schäfer, Jochen; Geist, Janelle; Inashkina, Inna; Kidere, Dita; Pajusalu, Sander; Wright, Nathan T.; Saak, Annika; Weinhold, Manja; Haubenberger, Dietrich; Jackson, Sandra; Kontrogianni‐Konstantopoulos, Aikaterini; Bönnemann, Carsten G.
Journal:
Annals of neurology
Issue:
Volume 86:Issue 1(2019)
Page Start:
129
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗