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Deborah L Stabley

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American Journal of Medical Genetics. Part A|October 30, 2007
Longitudinal assessment of cognitive characteristics in Costello syndromeMarni E Axelrad, Linda Nicholson, Deborah L Stabley, et al.
Human Mutation|July 13, 2006
Paternal bias in parental origin of HRAS mutations in Costello syndromeKatia Sol-Church, Deborah L Stabley, Linda Nicholson, et al.
American Journal of Medical Genetics. Part A|September 14, 2006
Somatic mosaicism for an HRAS mutation causes Costello syndromeKaren W Gripp, Deborah L Stabley, Linda Nicholson, et al.
Annals of Neurology|September 27, 2002
A PLP splicing abnormality is associated with an unusual presentation of PMDGrace M Hobson, Zhong Huang, Karen Sperle, et al.
Molecular Reproduction and Development|October 27, 2005
Murine Spam1 mRNA: involvement of AU-rich elements in the 3'UTR and antisense RNA in its tight post-transcriptional regulation in spermatidsHong Zhang, Barry L Barnoski, Katia Sol-Church, et al.
American Journal of Medical Genetics. Part A|April 11, 2012
Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotypeKaren W Gripp, Elizabeth Hopkins, Alvaro Serrano, et al.
American Journal of Medical Genetics. Part A|November 5, 2019
Medically actionable comorbidities in adults with Costello syndromeAmy R Shikany, Laura Baker, Deborah L Stabley, et al.
Biochemical and Biophysical Research Communications|June 11, 2002
Evolution of placentally expressed cathepsinsKatia Sol-Church, Gina N Picerno, Deborah L Stabley, et al.
American Journal of Medical Genetics. Part A|July 24, 2012
A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human developmentKaren W Gripp, Eugenia Bifeld, Deborah L Stabley, et al.
Biological Chemistry|November 20, 2002
Evolution of placental proteasesRobert W Mason, Deborah L Stabley, Gina N Picerno, et al.
Pageof 4

Showing results (1-10 of 40) with videos related to

Sort By:
Pageof 4
American Journal of Medical Genetics. Part A|October 30, 2007
Longitudinal assessment of cognitive characteristics in Costello syndromeMarni E Axelrad, Linda Nicholson, Deborah L Stabley, et al.
Human Mutation|July 13, 2006
Paternal bias in parental origin of HRAS mutations in Costello syndromeKatia Sol-Church, Deborah L Stabley, Linda Nicholson, et al.
American Journal of Medical Genetics. Part A|September 14, 2006
Somatic mosaicism for an HRAS mutation causes Costello syndromeKaren W Gripp, Deborah L Stabley, Linda Nicholson, et al.
Annals of Neurology|September 27, 2002
A PLP splicing abnormality is associated with an unusual presentation of PMDGrace M Hobson, Zhong Huang, Karen Sperle, et al.
Molecular Reproduction and Development|October 27, 2005
Murine Spam1 mRNA: involvement of AU-rich elements in the 3'UTR and antisense RNA in its tight post-transcriptional regulation in spermatidsHong Zhang, Barry L Barnoski, Katia Sol-Church, et al.
American Journal of Medical Genetics. Part A|April 11, 2012
Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotypeKaren W Gripp, Elizabeth Hopkins, Alvaro Serrano, et al.
American Journal of Medical Genetics. Part A|November 5, 2019
Medically actionable comorbidities in adults with Costello syndromeAmy R Shikany, Laura Baker, Deborah L Stabley, et al.
Biochemical and Biophysical Research Communications|June 11, 2002
Evolution of placentally expressed cathepsinsKatia Sol-Church, Gina N Picerno, Deborah L Stabley, et al.
American Journal of Medical Genetics. Part A|July 24, 2012
A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human developmentKaren W Gripp, Eugenia Bifeld, Deborah L Stabley, et al.
Biological Chemistry|November 20, 2002
Evolution of placental proteasesRobert W Mason, Deborah L Stabley, Gina N Picerno, et al.
Pageof 4