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Katia Sol-Church

Showing results (11-20 of 68) with videos related to

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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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 23, 2013
Assessing genotype-phenotype correlation in Costello syndrome using a severity scoreElizabeth M McCormick, Elizabeth Hopkins, Laura Conway, et al.
American Journal of Medical Genetics. Part A|April 4, 2017
Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13AspDébora Bertola, Michelle Buscarilli, Deborah L Stabley, et al.
American Journal of Medical Genetics. Part A|February 22, 2011
CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: two cases and literature reviewEleftheria Papadopoulou, Stavros Sifakis, Katia Sol-Church, et al.
American Journal of Medical Genetics. Part A|November 18, 2009
Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndromeMarni E Axelrad, David D Schwartz, Julie E Fehlis, et al.
American Journal of Medical Genetics. Part A|August 7, 2013
Verbal memory functioning in adolescents and young adults with Costello syndrome: evidence for relative preservation in recognition memoryDavid D Schwartz, Jennifer M Katzenstein, Elisabeth Hopkins, et al.
American Journal of Medical Genetics. Part A|August 12, 2011
Molecular confirmation of HRAS p.G12S in siblings with Costello syndromeKaren W Gripp, Deborah L Stabley, Peter L Geller, et al.
Neuromuscular Disorders : NMD|March 13, 2017
Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCRDeborah L Stabley, Jennifer Holbrook, Ashlee W Harris, et al.
Pageof 7

Showing results (11-20 of 68) with videos related to

Sort By:
Pageof 7
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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 23, 2013
Assessing genotype-phenotype correlation in Costello syndrome using a severity scoreElizabeth M McCormick, Elizabeth Hopkins, Laura Conway, et al.
American Journal of Medical Genetics. Part A|April 4, 2017
Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13AspDébora Bertola, Michelle Buscarilli, Deborah L Stabley, et al.
American Journal of Medical Genetics. Part A|February 22, 2011
CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: two cases and literature reviewEleftheria Papadopoulou, Stavros Sifakis, Katia Sol-Church, et al.
American Journal of Medical Genetics. Part A|November 18, 2009
Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndromeMarni E Axelrad, David D Schwartz, Julie E Fehlis, et al.
American Journal of Medical Genetics. Part A|August 7, 2013
Verbal memory functioning in adolescents and young adults with Costello syndrome: evidence for relative preservation in recognition memoryDavid D Schwartz, Jennifer M Katzenstein, Elisabeth Hopkins, et al.
American Journal of Medical Genetics. Part A|August 12, 2011
Molecular confirmation of HRAS p.G12S in siblings with Costello syndromeKaren W Gripp, Deborah L Stabley, Peter L Geller, et al.
Neuromuscular Disorders : NMD|March 13, 2017
Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCRDeborah L Stabley, Jennifer Holbrook, Ashlee W Harris, et al.
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