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Elizabeth Hopkins

Showing results (11-20 of 31) with videos related to

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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 16, 2011
Neurocognitive, adaptive, and behavioral functioning of individuals with Costello syndrome: a reviewMarni E Axelrad, David D Schwartz, Jennifer M Katzenstein, 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|September 13, 2011
Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing geneKaren W Gripp, Elizabeth Hopkins, Jennifer J Johnston, et al.
American Journal of Medical Genetics. Part A|April 9, 2009
Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromesKaren W Gripp, Elizabeth Hopkins, Chana Vinkler, 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.
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.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|February 6, 2003
Positive linear growth and bone responses to growth hormone treatment in children with types III and IV osteogenesis imperfecta: high predictive value of the carboxyterminal propeptide of type I procollagenJoan C Marini, Elizabeth Hopkins, Francis H Glorieux, 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|August 12, 2011
Molecular confirmation of HRAS p.G12S in siblings with Costello syndromeKaren W Gripp, Deborah L Stabley, Peter L Geller, et al.
American Journal of Medical Genetics. Part A|December 25, 2009
Living with Costello syndrome: quality of life issues in older individualsElizabeth Hopkins, Angela E Lin, Katherine E Krepkovich, et al.
Pageof 4

Showing results (11-20 of 31) with videos related to

Sort By:
Pageof 4
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 16, 2011
Neurocognitive, adaptive, and behavioral functioning of individuals with Costello syndrome: a reviewMarni E Axelrad, David D Schwartz, Jennifer M Katzenstein, 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|September 13, 2011
Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing geneKaren W Gripp, Elizabeth Hopkins, Jennifer J Johnston, et al.
American Journal of Medical Genetics. Part A|April 9, 2009
Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromesKaren W Gripp, Elizabeth Hopkins, Chana Vinkler, 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.
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.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|February 6, 2003
Positive linear growth and bone responses to growth hormone treatment in children with types III and IV osteogenesis imperfecta: high predictive value of the carboxyterminal propeptide of type I procollagenJoan C Marini, Elizabeth Hopkins, Francis H Glorieux, 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|August 12, 2011
Molecular confirmation of HRAS p.G12S in siblings with Costello syndromeKaren W Gripp, Deborah L Stabley, Peter L Geller, et al.
American Journal of Medical Genetics. Part A|December 25, 2009
Living with Costello syndrome: quality of life issues in older individualsElizabeth Hopkins, Angela E Lin, Katherine E Krepkovich, et al.
Pageof 4