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A Schrier

Showing results (41-50 of 71) with videos related to

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American Journal of Medical Genetics. Part A|June 7, 2016
SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional casesYuri A Zarate, Elizabeth Bhoj, Julie Kaylor, et al.
American Journal of Medical Genetics. Part A|November 10, 2011
Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literatureSamantha A Schrier, Ilana Sherer, Matthew A Deardorff, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 28, 2016
Characterization of limb differences in children with Cornelia de Lange SyndromeDevanshi Mehta, Samantha A Schrier Vergano, Matthew Deardorff, et al.
Nature Genetics|July 27, 2023
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disordersAlfredo M Valencia, Akshay Sankar, Pleuntje J van der Sluijs, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2026
New Treatments, Novel Conversations: A Need to Study the Science of Communication about Treatment Options for Inborn Errors of MetabolismEmily Shelkowitz, Samantha A Schrier Vergano, Monica Penon-Portmann, et al.
American Journal of Medical Genetics. Part A|August 18, 2017
The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odysseyBenjamin M Helm, Zoe Powis, Carlos E Prada, et al.
American Journal of Medical Genetics. Part A|October 11, 2018
Schaaf-Yang syndrome overview: Report of 78 individualsJohn McCarthy, Philip J Lupo, Erin Kovar, et al.
Molecular Genetics and Metabolism|May 9, 2018
Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defectJulia Wang, Emily Kim, Honzheng Dai, et al.
American Journal of Medical Genetics. Part A|June 20, 2012
The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping casesSamantha A Schrier, Joann N Bodurtha, Barbara Burton, et al.
Annals of Clinical and Translational Neurology|June 11, 2020
Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2Patrick R Blackburn, Matthew J Schultz, Carrie A Lahner, et al.
Pageof 8

Showing results (41-50 of 71) with videos related to

Sort By:
Pageof 8
American Journal of Medical Genetics. Part A|June 7, 2016
SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional casesYuri A Zarate, Elizabeth Bhoj, Julie Kaylor, et al.
American Journal of Medical Genetics. Part A|November 10, 2011
Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literatureSamantha A Schrier, Ilana Sherer, Matthew A Deardorff, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 28, 2016
Characterization of limb differences in children with Cornelia de Lange SyndromeDevanshi Mehta, Samantha A Schrier Vergano, Matthew Deardorff, et al.
Nature Genetics|July 27, 2023
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disordersAlfredo M Valencia, Akshay Sankar, Pleuntje J van der Sluijs, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2026
New Treatments, Novel Conversations: A Need to Study the Science of Communication about Treatment Options for Inborn Errors of MetabolismEmily Shelkowitz, Samantha A Schrier Vergano, Monica Penon-Portmann, et al.
American Journal of Medical Genetics. Part A|August 18, 2017
The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odysseyBenjamin M Helm, Zoe Powis, Carlos E Prada, et al.
American Journal of Medical Genetics. Part A|October 11, 2018
Schaaf-Yang syndrome overview: Report of 78 individualsJohn McCarthy, Philip J Lupo, Erin Kovar, et al.
Molecular Genetics and Metabolism|May 9, 2018
Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defectJulia Wang, Emily Kim, Honzheng Dai, et al.
American Journal of Medical Genetics. Part A|June 20, 2012
The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping casesSamantha A Schrier, Joann N Bodurtha, Barbara Burton, et al.
Annals of Clinical and Translational Neurology|June 11, 2020
Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2Patrick R Blackburn, Matthew J Schultz, Carrie A Lahner, et al.
Pageof 8