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Showing results (41-50 of 101) with videos related to

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BMJ Open Respiratory Research|January 2, 2015
Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associationsMeghan A Coghlan, Adrian Shifren, Howard J Huang, et al.
Analytical and Bioanalytical Chemistry|April 25, 2012
A method to determine the kinetics of multiple proteins in human infants with respiratory distress syndromeMichael S Bereman, Daniela M Tomazela, Hillary S Heins, et al.
World Journal of Pediatrics : WJP|February 8, 2018
Gene variants of the phosphatidylcholine synthesis pathway do not contribute to RDS in the Chinese populationYu-Jun Chen, Julia Meyer, Jennifer A Wambach, et al.
Neonatology|September 9, 2008
Developmental and genetic regulation of human surfactant protein B in vivoAaron Hamvas, Hillary B Heins, Susan H Guttentag, et al.
Pediatric Pulmonology|February 16, 2022
Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiencyKathryn K Xu, Daniel J Wegner, Lucille C Geurts, et al.
Ophthalmic Genetics|December 14, 2023
Case report: ocular manifestations of a gain-of-function mutation in <i>CLCN6</i>, a newly diagnosed diseaseLawrencia Kimera, Sameera Nadimpalli, Sudhi Kurup, et al.
Human Mutation|March 21, 2020
Functional characterization of four ATP-binding cassette transporter A3 gene (ABCA3) variantsJune Y Hu, Ping Yang, Daniel J Wegner, et al.
Pediatrics|November 21, 2012
Single ABCA3 mutations increase risk for neonatal respiratory distress syndromeJennifer A Wambach, Daniel J Wegner, Kelcey Depass, et al.
American Journal of Medical Genetics. Part A|May 21, 2014
Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veinsPrzemyslaw Szafranski, Avinash V Dharmadhikari, Jennifer A Wambach, et al.
The Journal of Steroid Biochemistry and Molecular Biology|May 13, 2021
Whole exome sequencing and functional characterization increase diagnostic yield in siblings with a 46, XY difference of sexual development (DSD)Sofia E Luna, Daniel J Wegner, Sarah Gale, et al.
Pageof 11

Showing results (41-50 of 101) with videos related to

Sort By:
Pageof 11
BMJ Open Respiratory Research|January 2, 2015
Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associationsMeghan A Coghlan, Adrian Shifren, Howard J Huang, et al.
Analytical and Bioanalytical Chemistry|April 25, 2012
A method to determine the kinetics of multiple proteins in human infants with respiratory distress syndromeMichael S Bereman, Daniela M Tomazela, Hillary S Heins, et al.
World Journal of Pediatrics : WJP|February 8, 2018
Gene variants of the phosphatidylcholine synthesis pathway do not contribute to RDS in the Chinese populationYu-Jun Chen, Julia Meyer, Jennifer A Wambach, et al.
Neonatology|September 9, 2008
Developmental and genetic regulation of human surfactant protein B in vivoAaron Hamvas, Hillary B Heins, Susan H Guttentag, et al.
Pediatric Pulmonology|February 16, 2022
Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiencyKathryn K Xu, Daniel J Wegner, Lucille C Geurts, et al.
Ophthalmic Genetics|December 14, 2023
Case report: ocular manifestations of a gain-of-function mutation in <i>CLCN6</i>, a newly diagnosed diseaseLawrencia Kimera, Sameera Nadimpalli, Sudhi Kurup, et al.
Human Mutation|March 21, 2020
Functional characterization of four ATP-binding cassette transporter A3 gene (ABCA3) variantsJune Y Hu, Ping Yang, Daniel J Wegner, et al.
Pediatrics|November 21, 2012
Single ABCA3 mutations increase risk for neonatal respiratory distress syndromeJennifer A Wambach, Daniel J Wegner, Kelcey Depass, et al.
American Journal of Medical Genetics. Part A|May 21, 2014
Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veinsPrzemyslaw Szafranski, Avinash V Dharmadhikari, Jennifer A Wambach, et al.
The Journal of Steroid Biochemistry and Molecular Biology|May 13, 2021
Whole exome sequencing and functional characterization increase diagnostic yield in siblings with a 46, XY difference of sexual development (DSD)Sofia E Luna, Daniel J Wegner, Sarah Gale, et al.
Pageof 11