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American Journal of Medical Genetics. Part A
|
April 5, 2017
Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome
David D Schwartz, Jennifer M Katzenstein, Eric J Highley, 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 mosaicism
Katia Sol-Church, Deborah L Stabley, Laurie A Demmer, et al.
American Journal of Medical Genetics. Part A
|
September 3, 2016
Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma
Katherine M Robbins, Deborah L Stabley, Jennifer Holbrook, et al.
Journal of Biomolecular Techniques : JBT
|
February 5, 2015
An integrated approach for analyzing clinical genomic variant data from next-generation sequencing
Erin L Crowgey, Deborah L Stabley, Chuming Chen, et al.
American Journal of Medical Genetics. Part A
|
December 25, 2009
Living with Costello syndrome: quality of life issues in older individuals
Elizabeth Hopkins, Angela E Lin, Katherine E Krepkovich, et al.
Journal of Biomolecular Techniques : JBT
|
April 10, 2023
Addressing the Environmental Impact of Science Through a More Rigorous, Reproducible, and Sustainable Conduct of Research
Susan M Meyn, Kathryn A Ramirez-Aguilar, Christopher W Gregory, et al.
American Journal of Medical Genetics. Part A
|
November 18, 2015
Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion
Karen W Gripp, Katherine M Robbins, Brandon S Sheffield, et al.
European Journal of Human Genetics : EJHG
|
April 14, 2005
Univariate and bivariate variance component linkage analysis of a whole-genome scan for loci contributing to bone mineral density
Marcella Devoto, Loretta D Spotila, Deborah L Stabley, et al.
Scientific Reports
|
July 28, 2022
Evidence for oligodendrocyte progenitor cell heterogeneity in the adult mouse brain
Rebecca M Beiter, Courtney Rivet-Noor, Andrea R Merchak, et al.
American Journal of Medical Genetics. Part A
|
August 14, 2012
Normative growth charts for individuals with Costello syndrome
Mary R Sammon, Dan Doyle, Elizabeth Hopkins, et al.
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of 7
Search research articles
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Showing results (21-30 of 68) with videos related to
Sort By:
Page
of 7
American Journal of Medical Genetics. Part A
|
April 5, 2017
Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome
David D Schwartz, Jennifer M Katzenstein, Eric J Highley, 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 mosaicism
Katia Sol-Church, Deborah L Stabley, Laurie A Demmer, et al.
American Journal of Medical Genetics. Part A
|
September 3, 2016
Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma
Katherine M Robbins, Deborah L Stabley, Jennifer Holbrook, et al.
Journal of Biomolecular Techniques : JBT
|
February 5, 2015
An integrated approach for analyzing clinical genomic variant data from next-generation sequencing
Erin L Crowgey, Deborah L Stabley, Chuming Chen, et al.
American Journal of Medical Genetics. Part A
|
December 25, 2009
Living with Costello syndrome: quality of life issues in older individuals
Elizabeth Hopkins, Angela E Lin, Katherine E Krepkovich, et al.
Journal of Biomolecular Techniques : JBT
|
April 10, 2023
Addressing the Environmental Impact of Science Through a More Rigorous, Reproducible, and Sustainable Conduct of Research
Susan M Meyn, Kathryn A Ramirez-Aguilar, Christopher W Gregory, et al.
American Journal of Medical Genetics. Part A
|
November 18, 2015
Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion
Karen W Gripp, Katherine M Robbins, Brandon S Sheffield, et al.
European Journal of Human Genetics : EJHG
|
April 14, 2005
Univariate and bivariate variance component linkage analysis of a whole-genome scan for loci contributing to bone mineral density
Marcella Devoto, Loretta D Spotila, Deborah L Stabley, et al.
Scientific Reports
|
July 28, 2022
Evidence for oligodendrocyte progenitor cell heterogeneity in the adult mouse brain
Rebecca M Beiter, Courtney Rivet-Noor, Andrea R Merchak, et al.
American Journal of Medical Genetics. Part A
|
August 14, 2012
Normative growth charts for individuals with Costello syndrome
Mary R Sammon, Dan Doyle, Elizabeth Hopkins, et al.
Page
of 7