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Deborah L Stabley

Showing results (31-40 of 40) with videos related to

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American Journal of Medical Genetics. Part A|August 7, 2013
Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosisKaren W Gripp, Dina J Zand, Laurie Demmer, et al.
American Journal of Medical Genetics. Part A|June 20, 2012
A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delayWagner A R Baratela, Michael B Bober, George E Tiller, et al.
American Journal of Medical Genetics. Part A|April 28, 2015
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequencesKaren W Gripp, Katia Sol-Church, Patroula Smpokou, et al.
American Journal of Medical Genetics. Part A|February 6, 2008
Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?Karen W Gripp, A Micheil Innes, Marni E Axelrad, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 15, 2026
Spinal Muscular Atrophy Among US Hutterites: Phenotype Variability in the Setting of Conserved Ancestral Haplotype and 4 SMN2 CopiesMatthew E R Butchbach, Jennifer J Kale, Sarah D Simeone, et al.
American Journal of Medical Genetics. Part A|November 15, 2014
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndromeKaren W Gripp, Katherine M Robbins, Nara L Sobreira, et al.
Molecular Genetics & Genomic Medicine|August 7, 2015
SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCRDeborah L Stabley, Ashlee W Harris, Jennifer Holbrook, et al.
American Journal of Medical Genetics. Part A|June 7, 2007
Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndromeKaren W Gripp, Angela E Lin, Linda Nicholson, et al.
American Journal of Medical Genetics. Part A|December 6, 2005
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlationKaren W Gripp, Angela E Lin, Deborah L Stabley, et al.
American Journal of Medical Genetics. Part A|March 26, 2011
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13CKaren W Gripp, Elizabeth Hopkins, Katia Sol-Church, et al.
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Showing results (31-40 of 40) with videos related to

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Pageof 4
You have reached the last page of results.This site can display upto 40 results.
American Journal of Medical Genetics. Part A|August 7, 2013
Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosisKaren W Gripp, Dina J Zand, Laurie Demmer, et al.
American Journal of Medical Genetics. Part A|June 20, 2012
A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delayWagner A R Baratela, Michael B Bober, George E Tiller, et al.
American Journal of Medical Genetics. Part A|April 28, 2015
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequencesKaren W Gripp, Katia Sol-Church, Patroula Smpokou, et al.
American Journal of Medical Genetics. Part A|February 6, 2008
Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?Karen W Gripp, A Micheil Innes, Marni E Axelrad, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 15, 2026
Spinal Muscular Atrophy Among US Hutterites: Phenotype Variability in the Setting of Conserved Ancestral Haplotype and 4 SMN2 CopiesMatthew E R Butchbach, Jennifer J Kale, Sarah D Simeone, et al.
American Journal of Medical Genetics. Part A|November 15, 2014
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndromeKaren W Gripp, Katherine M Robbins, Nara L Sobreira, et al.
Molecular Genetics & Genomic Medicine|August 7, 2015
SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCRDeborah L Stabley, Ashlee W Harris, Jennifer Holbrook, et al.
American Journal of Medical Genetics. Part A|June 7, 2007
Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndromeKaren W Gripp, Angela E Lin, Linda Nicholson, et al.
American Journal of Medical Genetics. Part A|December 6, 2005
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlationKaren W Gripp, Angela E Lin, Deborah L Stabley, et al.
American Journal of Medical Genetics. Part A|March 26, 2011
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13CKaren W Gripp, Elizabeth Hopkins, Katia Sol-Church, et al.
Pageof 4