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Matthew A Deardorff

Showing results (41-50 of 128) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 14, 2012
NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlationDavut Pehlivan, Melanie Hullings, Claudia M B Carvalho, et al.
American Journal of Medical Genetics. Part A|September 12, 2012
Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysisKathryn C Chatfield, Samantha A Schrier, Jennifer Li, et al.
Pharmacogenetics and Genomics|January 7, 2026
The role of pharmacogenomics and opioid prescribing for infants with surgical congenital heart diseaseRabab M Barq, Shadassa Ourshalimian, Simran Maggo, 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.
Cancer Genetics|July 4, 2020
Evolution of histomorphologic, cytogenetic, and genetic abnormalities in an untreated patient with MIRAGE syndromeStefan Rentas, Vinodh Pillai, Gerald B Wertheim, et al.
The Journal of Pediatrics|July 19, 2025
Opioid-Related Pharmacogenomic Variants in a Retrospective Cohort of High-Risk Hospitalized InfantsRabab M Barq, Shadassa Ourshalimian, Simran Maggo, et al.
The Journal of Investigative Dermatology|September 7, 2013
Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticumQiaoli Li, Jill L Brodsky, Laura K Conlin, et al.
Human Molecular Genetics|January 8, 2010
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysisLaura K Conlin, Brian D Thiel, Carsten G Bonnemann, et al.
Molecular Genetics & Genomic Medicine|February 15, 2019
Molecular diagnosis of somatic overgrowth conditions: A single-center experienceEmilie Lalonde, Jessica Ebrahimzadeh, Keith Rafferty, et al.
Frontiers in Immunology|May 9, 2012
Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA mutationsMichael D Keller, Maureen Petersen, Peck Ong, et al.
Pageof 13

Showing results (41-50 of 128) with videos related to

Sort By:
Pageof 13
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 14, 2012
NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlationDavut Pehlivan, Melanie Hullings, Claudia M B Carvalho, et al.
American Journal of Medical Genetics. Part A|September 12, 2012
Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysisKathryn C Chatfield, Samantha A Schrier, Jennifer Li, et al.
Pharmacogenetics and Genomics|January 7, 2026
The role of pharmacogenomics and opioid prescribing for infants with surgical congenital heart diseaseRabab M Barq, Shadassa Ourshalimian, Simran Maggo, 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.
Cancer Genetics|July 4, 2020
Evolution of histomorphologic, cytogenetic, and genetic abnormalities in an untreated patient with MIRAGE syndromeStefan Rentas, Vinodh Pillai, Gerald B Wertheim, et al.
The Journal of Pediatrics|July 19, 2025
Opioid-Related Pharmacogenomic Variants in a Retrospective Cohort of High-Risk Hospitalized InfantsRabab M Barq, Shadassa Ourshalimian, Simran Maggo, et al.
The Journal of Investigative Dermatology|September 7, 2013
Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticumQiaoli Li, Jill L Brodsky, Laura K Conlin, et al.
Human Molecular Genetics|January 8, 2010
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysisLaura K Conlin, Brian D Thiel, Carsten G Bonnemann, et al.
Molecular Genetics & Genomic Medicine|February 15, 2019
Molecular diagnosis of somatic overgrowth conditions: A single-center experienceEmilie Lalonde, Jessica Ebrahimzadeh, Keith Rafferty, et al.
Frontiers in Immunology|May 9, 2012
Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA mutationsMichael D Keller, Maureen Petersen, Peck Ong, et al.
Pageof 13