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Deborah L Stabley

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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.
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.
European Journal of Human Genetics : EJHG|June 6, 2020
The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspectsKaren W Gripp, Laura Baker, Katherine M Robbins, 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.
Neurogenetics|January 8, 2021
Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCRDeborah L Stabley, Jennifer Holbrook, Mena Scavina, et al.
American Journal of Medical Genetics. Part A|February 12, 2009
Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicismKatia Sol-Church, Deborah L Stabley, Laurie A Demmer, 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 4

Showing results (11-20 of 40) with videos related to

Sort By:
Pageof 4
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.
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.
European Journal of Human Genetics : EJHG|June 6, 2020
The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspectsKaren W Gripp, Laura Baker, Katherine M Robbins, 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.
Neurogenetics|January 8, 2021
Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCRDeborah L Stabley, Jennifer Holbrook, Mena Scavina, et al.
American Journal of Medical Genetics. Part A|February 12, 2009
Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicismKatia Sol-Church, Deborah L Stabley, Laurie A Demmer, 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 4