Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Laura Southgate

Showing results (21-30 of 45) with videos related to

Pageof 5
Sort By:
Human Mutation|July 15, 2025
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.
Human Mutation|April 1, 2015
DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomaliesMaja Sukalo, Felix Tilsen, Hülya Kayserili, et al.
Human Mutation|October 13, 2015
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye AnomaliesMaja Sukalo, Felix Tilsen, Hülya Kayserili, et al.
The European Respiratory Journal|November 21, 2019
Mendelian randomisation analysis of red cell distribution width in pulmonary arterial hypertensionAnna Ulrich, John Wharton, Timothy E Thayer, et al.
Circulation. Cardiovascular Genetics|May 13, 2015
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac AnomaliesLaura Southgate, Maja Sukalo, Anastasios S V Karountzos, et al.
American Journal of Respiratory and Critical Care Medicine|March 12, 2024
Shared and Distinct Genomics of Chronic Thromboembolic Pulmonary Hypertension and Pulmonary EmbolismJames Liley, Michael Newnham, Marta Bleda, et al.
American Journal of Human Genetics|May 14, 2011
Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomaliesLaura Southgate, Rajiv D Machado, Katie M Snape, et al.
Human Mutation|September 8, 2011
Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertensionMd Talat Nasim, Takeshi Ogo, Mohammad Ahmed, et al.
Journal of Medical Genetics|September 8, 2021
Biallelic variants of <i>ATP13A3</i> cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortalityRajiv D Machado, Carrie L Welch, Matthias Haimel, et al.
Human Mutation|September 22, 2015
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic DefectsRajiv D Machado, Laura Southgate, Christina A Eichstaedt, et al.
Pageof 5

Showing results (21-30 of 45) with videos related to

Sort By:
Pageof 5
Human Mutation|July 15, 2025
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.
Human Mutation|April 1, 2015
DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomaliesMaja Sukalo, Felix Tilsen, Hülya Kayserili, et al.
Human Mutation|October 13, 2015
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye AnomaliesMaja Sukalo, Felix Tilsen, Hülya Kayserili, et al.
The European Respiratory Journal|November 21, 2019
Mendelian randomisation analysis of red cell distribution width in pulmonary arterial hypertensionAnna Ulrich, John Wharton, Timothy E Thayer, et al.
Circulation. Cardiovascular Genetics|May 13, 2015
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac AnomaliesLaura Southgate, Maja Sukalo, Anastasios S V Karountzos, et al.
American Journal of Respiratory and Critical Care Medicine|March 12, 2024
Shared and Distinct Genomics of Chronic Thromboembolic Pulmonary Hypertension and Pulmonary EmbolismJames Liley, Michael Newnham, Marta Bleda, et al.
American Journal of Human Genetics|May 14, 2011
Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomaliesLaura Southgate, Rajiv D Machado, Katie M Snape, et al.
Human Mutation|September 8, 2011
Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertensionMd Talat Nasim, Takeshi Ogo, Mohammad Ahmed, et al.
Journal of Medical Genetics|September 8, 2021
Biallelic variants of <i>ATP13A3</i> cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortalityRajiv D Machado, Carrie L Welch, Matthias Haimel, et al.
Human Mutation|September 22, 2015
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic DefectsRajiv D Machado, Laura Southgate, Christina A Eichstaedt, et al.
Pageof 5