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Simon Holden

Showing results (21-30 of 32) with videos related to

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HGG Advances|April 3, 2023
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of <i>TSPEAR</i>-related autosomal recessive ectodermal dysplasia 14Adam Jackson, Sheng-Jia Lin, Elizabeth A Jones, et al.
The Journal of Investigative Dermatology|August 14, 2016
Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) MutationsJulie Soblet, Jaakko Kangas, Marjut Nätynki, et al.
American Journal of Human Genetics|June 9, 2004
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardationPatrick Tarpey, Josep Parnau, Matthew Blow, et al.
The Journal of Experimental Medicine|August 13, 2021
Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3AAlice Lepelley, Erika Della Mina, Erika Van Nieuwenhove, 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.
American Journal of Respiratory and Critical Care Medicine|July 19, 2022
First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung DiseaseMatina Prapa, Mauro Lago-Docampo, Emilia M Swietlik, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2025
Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndromeSusan Walker, David J Bunyan, Huw B Thomas, et al.
American Journal of Respiratory and Critical Care Medicine|October 30, 2019
Characterization of <i>GDF2</i> Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial HypertensionJoshua Hodgson, Emilia M Swietlik, Richard M Salmon, et al.
Circulation. Genomic and Precision Medicine|December 15, 2020
Bayesian Inference Associates Rare <i>KDR</i> Variants with Specific Phenotypes in Pulmonary Arterial HypertensionEmilia M Swietlik, Daniel Greene, Na Zhu, et al.
Nature Communications|April 14, 2018
Identification of rare sequence variation underlying heritable pulmonary arterial hypertensionStefan Gräf, Matthias Haimel, Marta Bleda, et al.
Pageof 4

Showing results (21-30 of 32) with videos related to

Sort By:
Pageof 4
HGG Advances|April 3, 2023
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of <i>TSPEAR</i>-related autosomal recessive ectodermal dysplasia 14Adam Jackson, Sheng-Jia Lin, Elizabeth A Jones, et al.
The Journal of Investigative Dermatology|August 14, 2016
Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) MutationsJulie Soblet, Jaakko Kangas, Marjut Nätynki, et al.
American Journal of Human Genetics|June 9, 2004
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardationPatrick Tarpey, Josep Parnau, Matthew Blow, et al.
The Journal of Experimental Medicine|August 13, 2021
Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3AAlice Lepelley, Erika Della Mina, Erika Van Nieuwenhove, 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.
American Journal of Respiratory and Critical Care Medicine|July 19, 2022
First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung DiseaseMatina Prapa, Mauro Lago-Docampo, Emilia M Swietlik, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2025
Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndromeSusan Walker, David J Bunyan, Huw B Thomas, et al.
American Journal of Respiratory and Critical Care Medicine|October 30, 2019
Characterization of <i>GDF2</i> Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial HypertensionJoshua Hodgson, Emilia M Swietlik, Richard M Salmon, et al.
Circulation. Genomic and Precision Medicine|December 15, 2020
Bayesian Inference Associates Rare <i>KDR</i> Variants with Specific Phenotypes in Pulmonary Arterial HypertensionEmilia M Swietlik, Daniel Greene, Na Zhu, et al.
Nature Communications|April 14, 2018
Identification of rare sequence variation underlying heritable pulmonary arterial hypertensionStefan Gräf, Matthias Haimel, Marta Bleda, et al.
Pageof 4