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Anna Marie E Brassington
Anna Marie E Brassington
University of Utah
Genetics
Biology
Mutation
Missense mutation
Proband
6
Papers
713
Citations
0.01
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A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome
2006
American Journal of Human Genetics
Reha M. Toydemir
Anna Marie E Brassington
Pinar Bayrak-Toydemir
Patrycja A. Krakowiak
Lynn B. Jorde
Frank G. Whitby
Nicola Longo
David H. Viskochil
John C. Carey
Michael J. Bamshad
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Citations (108)
Mutations in Genes Encoding Fast-Twitch Contractile Proteins Cause Distal Arthrogryposis Syndromes
2003
American Journal of Human Genetics
Sandy S. Sung
Anna Marie E Brassington
Kathryn Grannatt
Ann Rutherford
Frank G. Whitby
Patrycja A. Krakowiak
Lynn B. Jorde
John C. Carey
Michael J. Bamshad
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Citations (166)
Expressivity of Holt-Oram Syndrome Is Not Predicted by TBX5 Genotype
2003
American Journal of Human Genetics
Anna Marie E Brassington
Sandy S. Sung
Reha M. Toydemir
Trung Le
Amy D. Roeder
Ann Rutherford
Frank G. Whitby
Lynn B. Jorde
Michael J. Bamshad
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Citations (123)
No genotype-phenotype correlation in Holt-Oram syndrome
2002
Anna Marie E Brassington
Sandy S. Sung
Reha M. Toydemir
Trung Le
Amy D. Roeder
Lynn B. Jorde
Michael J. Bamshad
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