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G Biesecker

Showing results (341-350 of 475) with videos related to

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American Journal of Human Genetics|October 18, 2016
GCM2-Activating Mutations in Familial Isolated HyperparathyroidismBin Guan, James M Welch, Julie C Sapp, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 13, 2006
Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemiaMarjorie J Lindhurst, Giuseppe Fiermonte, Shiwei Song, et al.
American Journal of Medical Genetics. Part A|January 6, 2015
PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluationKim M Keppler-Noreuil, Jonathan J Rios, Victoria E R Parker, et al.
American Journal of Human Genetics|August 18, 2015
A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen SyndromeJennifer J Johnston, Monica Y Sanchez-Contreras, Kim M Keppler-Noreuil, et al.
European Journal of Human Genetics : EJHG|March 3, 2024
Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023Sophie Allen, Alice Garrett, Lara Muffley, et al.
JAMA Internal Medicine|January 23, 2018
Web Platform vs In-Person Genetic Counselor for Return of Carrier Results From Exome Sequencing: A Randomized Clinical TrialBarbara B Biesecker, Katie L Lewis, Kendall L Umstead, et al.
American Journal of Human Genetics|February 7, 2012
The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuriaJennifer J Johnston, Andrea L Gropman, Julie C Sapp, et al.
Medrxiv : the Preprint Server for Health Sciences|March 18, 2024
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendationsSarah L Stenton, Vikas Pejaver, Timothy Bergquist, et al.
European Journal of Human Genetics : EJHG|February 18, 2011
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3Jane A Hurst, Dagan Jenkins, Pradeep C Vasudevan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 22, 2025
Isolated lateralized overgrowth and the need for tumor screening: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)Angelika L Erwin, Aya Abu El Haija, James T Bennett, et al.
Pageof 48

Showing results (341-350 of 475) with videos related to

Sort By:
Pageof 48
American Journal of Human Genetics|October 18, 2016
GCM2-Activating Mutations in Familial Isolated HyperparathyroidismBin Guan, James M Welch, Julie C Sapp, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 13, 2006
Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemiaMarjorie J Lindhurst, Giuseppe Fiermonte, Shiwei Song, et al.
American Journal of Medical Genetics. Part A|January 6, 2015
PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluationKim M Keppler-Noreuil, Jonathan J Rios, Victoria E R Parker, et al.
American Journal of Human Genetics|August 18, 2015
A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen SyndromeJennifer J Johnston, Monica Y Sanchez-Contreras, Kim M Keppler-Noreuil, et al.
European Journal of Human Genetics : EJHG|March 3, 2024
Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023Sophie Allen, Alice Garrett, Lara Muffley, et al.
JAMA Internal Medicine|January 23, 2018
Web Platform vs In-Person Genetic Counselor for Return of Carrier Results From Exome Sequencing: A Randomized Clinical TrialBarbara B Biesecker, Katie L Lewis, Kendall L Umstead, et al.
American Journal of Human Genetics|February 7, 2012
The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuriaJennifer J Johnston, Andrea L Gropman, Julie C Sapp, et al.
Medrxiv : the Preprint Server for Health Sciences|March 18, 2024
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendationsSarah L Stenton, Vikas Pejaver, Timothy Bergquist, et al.
European Journal of Human Genetics : EJHG|February 18, 2011
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3Jane A Hurst, Dagan Jenkins, Pradeep C Vasudevan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 22, 2025
Isolated lateralized overgrowth and the need for tumor screening: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)Angelika L Erwin, Aya Abu El Haija, James T Bennett, et al.
Pageof 48