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Laura Southgate

Showing results (31-40 of 45) with videos related to

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American Journal of Human Genetics|August 25, 2015
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver SyndromeJosephina A N Meester, Laura Southgate, Anna-Barbara Stittrich, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 18, 2020
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndromeSara Cuvertino, Verity Hartill, Alice Colyer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 24, 2020
Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndromeSara Cuvertino, Verity Hartill, Alice Colyer, et al.
American Journal of Respiratory and Critical Care Medicine|May 1, 2020
Whole-Blood RNA Profiles Associated with Pulmonary Arterial Hypertension and Clinical OutcomeChristopher J Rhodes, Pablo Otero-Núñez, John Wharton, et al.
Human Mutation|June 21, 2018
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohortJosephina A N Meester, Maja Sukalo, Kim C Schröder, et al.
Science (New York, N.Y.)|March 5, 2016
Health and population effects of rare gene knockouts in adult humans with related parentsVagheesh M Narasimhan, Karen A Hunt, Dan Mason, et al.
Annals of Neurology|June 29, 2021
Genome-Wide Association Study Identifies Risk Loci for Cluster HeadacheEmer O'Connor, Carmen Fourier, Caroline Ran, et al.
Circulation|October 4, 2017
Phenotypic Characterization of <i>EIF2AK4</i> Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial HypertensionCharaka Hadinnapola, Marta Bleda, Matthias Haimel, et al.
Nature Genetics|September 14, 2010
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucomaGudmar Thorleifsson, G Bragi Walters, Alex W Hewitt, et al.
Science Translational Medicine|January 10, 2024
Allele-specific control of rodent and human lncRNA KMT2E-AS1 promotes hypoxic endothelial pathology in pulmonary hypertensionYi-Yin Tai, Qiujun Yu, Ying Tang, et al.
Pageof 5

Showing results (31-40 of 45) with videos related to

Sort By:
Pageof 5
American Journal of Human Genetics|August 25, 2015
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver SyndromeJosephina A N Meester, Laura Southgate, Anna-Barbara Stittrich, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 18, 2020
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndromeSara Cuvertino, Verity Hartill, Alice Colyer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 24, 2020
Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndromeSara Cuvertino, Verity Hartill, Alice Colyer, et al.
American Journal of Respiratory and Critical Care Medicine|May 1, 2020
Whole-Blood RNA Profiles Associated with Pulmonary Arterial Hypertension and Clinical OutcomeChristopher J Rhodes, Pablo Otero-Núñez, John Wharton, et al.
Human Mutation|June 21, 2018
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohortJosephina A N Meester, Maja Sukalo, Kim C Schröder, et al.
Science (New York, N.Y.)|March 5, 2016
Health and population effects of rare gene knockouts in adult humans with related parentsVagheesh M Narasimhan, Karen A Hunt, Dan Mason, et al.
Annals of Neurology|June 29, 2021
Genome-Wide Association Study Identifies Risk Loci for Cluster HeadacheEmer O'Connor, Carmen Fourier, Caroline Ran, et al.
Circulation|October 4, 2017
Phenotypic Characterization of <i>EIF2AK4</i> Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial HypertensionCharaka Hadinnapola, Marta Bleda, Matthias Haimel, et al.
Nature Genetics|September 14, 2010
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucomaGudmar Thorleifsson, G Bragi Walters, Alex W Hewitt, et al.
Science Translational Medicine|January 10, 2024
Allele-specific control of rodent and human lncRNA KMT2E-AS1 promotes hypoxic endothelial pathology in pulmonary hypertensionYi-Yin Tai, Qiujun Yu, Ying Tang, et al.
Pageof 5