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Laura Southgate

Showing results (11-20 of 45) with videos related to

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Human Mutation|February 1, 2011
Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone developmentCeline Denais, Carolyn L Dent, Laura Southgate, et al.
Human Mutation|September 24, 2015
Network-Informed Gene Ranking Tackles Genetic Heterogeneity in Exome-Sequencing Studies of Monogenic DiseaseNick Dand, Reiner Schulz, Michael E Weale, et al.
American Journal of Respiratory and Critical Care Medicine|July 17, 2013
Assessment of a pulmonary origin for blood outgrowth endothelial cells by examination of identical twins harboring a BMPR2 mutationMark L Ormiston, Laura Southgate, Carmen Treacy, et al.
Genes|November 14, 2020
Whole Exome Sequence Analysis Provides Novel Insights into the Genetic Framework of Childhood-Onset Pulmonary Arterial HypertensionSimone M Gelinas, Clare E Benson, Mohammed A Khan, et al.
Plos One|November 18, 2021
Extraction and high-throughput sequencing of oak heartwood DNA: Assessing the feasibility of genome-wide DNA methylation profilingFederico Rossi, Alessandro Crnjar, Federico Comitani, et al.
Neurogenetics|April 15, 2010
Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafishLaura Southgate, Dimitra Dafou, Jacqueline Hoyle, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 9, 2023
Defining the clinical validity of genes reported to cause pulmonary arterial hypertensionCarrie L Welch, Micheala A Aldred, Srimmitha Balachandar, et al.
The Journal of Clinical Investigation|October 7, 2025
Defective Notch1 signaling in endothelial cells drives pathogenesis in a mouse model of Adams-Oliver syndromeAlyssa F Solano, Kristina Preusse, Brittany Cain, et al.
Circulation|August 18, 2010
Elevated levels of inflammatory cytokines predict survival in idiopathic and familial pulmonary arterial hypertensionElaine Soon, Alan M Holmes, Carmen M Treacy, et al.
Medrxiv : the Preprint Server for Health Sciences|December 9, 2024
Adaptation of ACMG/AMP guidelines for clinical classification of <i>BMPR2</i> variants in Pulmonary Arterial Hypertension resolves variants of unclear pathogenicity in ClinVarChristina A Eichstaedt, Gabriel Maldonado-Velez, Rajiv D Machado, et al.
Pageof 5

Showing results (11-20 of 45) with videos related to

Sort By:
Pageof 5
Human Mutation|February 1, 2011
Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone developmentCeline Denais, Carolyn L Dent, Laura Southgate, et al.
Human Mutation|September 24, 2015
Network-Informed Gene Ranking Tackles Genetic Heterogeneity in Exome-Sequencing Studies of Monogenic DiseaseNick Dand, Reiner Schulz, Michael E Weale, et al.
American Journal of Respiratory and Critical Care Medicine|July 17, 2013
Assessment of a pulmonary origin for blood outgrowth endothelial cells by examination of identical twins harboring a BMPR2 mutationMark L Ormiston, Laura Southgate, Carmen Treacy, et al.
Genes|November 14, 2020
Whole Exome Sequence Analysis Provides Novel Insights into the Genetic Framework of Childhood-Onset Pulmonary Arterial HypertensionSimone M Gelinas, Clare E Benson, Mohammed A Khan, et al.
Plos One|November 18, 2021
Extraction and high-throughput sequencing of oak heartwood DNA: Assessing the feasibility of genome-wide DNA methylation profilingFederico Rossi, Alessandro Crnjar, Federico Comitani, et al.
Neurogenetics|April 15, 2010
Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafishLaura Southgate, Dimitra Dafou, Jacqueline Hoyle, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 9, 2023
Defining the clinical validity of genes reported to cause pulmonary arterial hypertensionCarrie L Welch, Micheala A Aldred, Srimmitha Balachandar, et al.
The Journal of Clinical Investigation|October 7, 2025
Defective Notch1 signaling in endothelial cells drives pathogenesis in a mouse model of Adams-Oliver syndromeAlyssa F Solano, Kristina Preusse, Brittany Cain, et al.
Circulation|August 18, 2010
Elevated levels of inflammatory cytokines predict survival in idiopathic and familial pulmonary arterial hypertensionElaine Soon, Alan M Holmes, Carmen M Treacy, et al.
Medrxiv : the Preprint Server for Health Sciences|December 9, 2024
Adaptation of ACMG/AMP guidelines for clinical classification of <i>BMPR2</i> variants in Pulmonary Arterial Hypertension resolves variants of unclear pathogenicity in ClinVarChristina A Eichstaedt, Gabriel Maldonado-Velez, Rajiv D Machado, et al.
Pageof 5