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Author/Creator Lee, Youngha

1. De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features. Issue 3 (19th May 2020)

Authors:
Buratti, Julien; Ji, Lei; Keren, Boris; Lee, Youngha; Booke, Stephanie; Erdin, Serkan; Kim, Soo Yeon; Palculict, Timothy Blake; Meiner, Vardiella; Chae, Jong Hee; Woods, Christopher Geoffrey; Tam, Allison; Héron, Delphine; Cong, Feng; Harel, Tamar
Journal:
Journal of medical genetics
Issue:
Volume 58:Issue 3(2021)
Page Start:
205
Record Type:
Journal Article
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2. GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. Issue 3 (22nd September 2017)

Authors:
Yoo, Yongjin; Jung, Jane; Lee, Yoo‐Na; Lee, Youngha; Cho, Hyosuk; Na, Eunjung; Hong, JeaYeok; Kim, Eunjin; Lee, Jin Sook; Lee, Je Sang; Hong, Chansik; Park, Sang‐Yoon; Wie, Jinhong; Miller, Kathryn; Shur, Natasha; Clow, Cheryl; Ebel, Roseànne S.; DeBrosse, Suzanne D.; Henderson, Lindsay B.; Willa...
Journal:
Annals of neurology
Issue:
Volume 82:Issue 3(2017)
Page Start:
466
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. 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
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗