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Steven B Bleyl

Showing results (31-40 of 44) with videos related to

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Human Molecular Genetics|January 15, 2010
Dysregulation of the PDGFRA gene causes inflow tract anomalies including TAPVR: integrating evidence from human genetics and model organismsSteven B Bleyl, Yukio Saijoh, Noortje A M Bax, et al.
American Journal of Medical Genetics. Part A|August 19, 2015
Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locusNeil E Bowles, Chuanchau J Jou, Cammon B Arrington, et al.
Pediatric Research|February 4, 2022
Evaluating use of changing technologies for rapid next-generation sequencing in pediatricsRachel Palmquist, Sabrina Malone Jenkins, Dawn Bentley, et al.
American Journal of Medical Genetics. Part A|November 21, 2012
A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic herniaCammon B Arrington, Steven B Bleyl, Nori Matsunami, et al.
American Journal of Medical Genetics. Part A|May 7, 2015
Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathyWhitney Wooderchak-Donahue, Chad VanSant-Webb, Tatiana Tvrdik, et al.
Cardiovascular Research|November 6, 2019
Myocardial overexpression of ANKRD1 causes sinus venosus defects and progressive diastolic dysfunctionNicoletta Piroddi, Paola Pesce, Beatrice Scellini, et al.
Molecular Genetics & Genomic Medicine|June 14, 2019
Targeted gene panel sequencing for the rapid diagnosis of acutely ill infantsLuca Brunelli, Sabrina M Jenkins, James M Gudgeon, et al.
BMC Medical Genomics|November 14, 2025
RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease casesRobert G Lewis, John M O'Shea, Lucilla Pizzo, et al.
Clinical Genetics|June 23, 2026
Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A VariantsEvan Burchfiel, Xiaonan Zhao, Nichole M Owen, et al.
BMC Medicine|August 18, 2021
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort studyEden V Haverfield, Edward D Esplin, Sienna J Aguilar, et al.
Pageof 5

Showing results (31-40 of 44) with videos related to

Sort By:
Pageof 5
Human Molecular Genetics|January 15, 2010
Dysregulation of the PDGFRA gene causes inflow tract anomalies including TAPVR: integrating evidence from human genetics and model organismsSteven B Bleyl, Yukio Saijoh, Noortje A M Bax, et al.
American Journal of Medical Genetics. Part A|August 19, 2015
Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locusNeil E Bowles, Chuanchau J Jou, Cammon B Arrington, et al.
Pediatric Research|February 4, 2022
Evaluating use of changing technologies for rapid next-generation sequencing in pediatricsRachel Palmquist, Sabrina Malone Jenkins, Dawn Bentley, et al.
American Journal of Medical Genetics. Part A|November 21, 2012
A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic herniaCammon B Arrington, Steven B Bleyl, Nori Matsunami, et al.
American Journal of Medical Genetics. Part A|May 7, 2015
Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathyWhitney Wooderchak-Donahue, Chad VanSant-Webb, Tatiana Tvrdik, et al.
Cardiovascular Research|November 6, 2019
Myocardial overexpression of ANKRD1 causes sinus venosus defects and progressive diastolic dysfunctionNicoletta Piroddi, Paola Pesce, Beatrice Scellini, et al.
Molecular Genetics & Genomic Medicine|June 14, 2019
Targeted gene panel sequencing for the rapid diagnosis of acutely ill infantsLuca Brunelli, Sabrina M Jenkins, James M Gudgeon, et al.
BMC Medical Genomics|November 14, 2025
RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease casesRobert G Lewis, John M O'Shea, Lucilla Pizzo, et al.
Clinical Genetics|June 23, 2026
Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A VariantsEvan Burchfiel, Xiaonan Zhao, Nichole M Owen, et al.
BMC Medicine|August 18, 2021
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort studyEden V Haverfield, Edward D Esplin, Sienna J Aguilar, et al.
Pageof 5