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Author/Creator Lu, James T.

1. Adult presentation of X‐linked Conradi‐Hünermann‐Happle syndrome. (2nd April 2015)

Authors:
Posey, Jennifer E.; Burrage, Lindsay C.; Campeau, Philippe M.; Lu, James T.; Eble, Tanya N.; Kratz, Lisa; Schlesinger, Alan E.; Gibbs, Richard A.; Lee, Brendan H.; Nagamani, Sandesh C.S.
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 6(2015:Jun.)
Page Start:
1309
Record Type:
Journal Article
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3. Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. Issue 3 (26th November 2016)

Authors:
Machol, Keren; Jain, Mahim; Almannai, Mohammed; Orand, Thibault; Lu, James T.; Tran, Alyssa; Chen, Yuqing; Schlesinger, Alan; Gibbs, Richard; Bonafe, Luisa; Campos‐Xavier, Ana Belinda; Unger, Sheila; Superti‐Furga, Andrea; Lee, Brendan H.; Campeau, Philippe M.; Burrage, Lindsay C.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 3(2017)
Page Start:
733
Record Type:
Journal Article
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4. Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Issue 10 (10th July 2017)

Authors:
Marom, Ronit; Jain, Mahim; Burrage, Lindsay C.; Song, I‐Wen; Graham, Brett H.; Brown, Chester W.; Stevens, Servi J.C.; Stegmann, Alexander P.A.; Gunter, Andrew T.; Kaplan, Julie D.; Gavrilova, Ralitza H.; Shinawi, Marwan; Rosenfeld, Jill A.; Bae, Yangjin; Tran, Alyssa A.; Chen, Yuqing; Lu, James ...
Journal:
Human mutation
Issue:
Volume 38:Issue 10(2017)
Page Start:
1365
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗