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G Biesecker

Showing results (401-410 of 475) with videos related to

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Human Molecular Genetics|July 18, 2022
Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibilityJennifer J Johnston, Robert T Dirksen, Thierry Girard, et al.
Genome Medicine|January 2, 2020
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation frameworkSarah E Brnich, Ahmad N Abou Tayoun, Fergus J Couch, et al.
American Journal of Human Genetics|February 27, 2019
Pharmacodynamic Study of Miransertib in Individuals with Proteus SyndromeKim M Keppler-Noreuil, Julie C Sapp, Marjorie J Lindhurst, et al.
BMC Genomics|March 18, 2014
Identification of candidate genes involved in coronary artery calcification by transcriptome sequencing of cell linesShurjo K Sen, Jennifer J Barb, Praveen F Cherukuri, et al.
Journal of Clinical Pharmacology|July 6, 2026
Genome Sequencing Enhances Precision and Clinical Utility of Pharmacogenetic Data Compared to ArraysIbrahim Numanagić, Morgan Similuk, Tristan M Sissung, et al.
Journal of Medical Genetics|January 17, 2014
A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndromeTaraneh Esmailpour, Hamidreza Riazifar, Linan Liu, et al.
The Journal of Clinical Endocrinology and Metabolism|September 2, 2020
Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic AmenorrheaAngela Delaney, Adam B Burkholder, Christopher A Lavender, et al.
American Journal of Medical Genetics. Part A|May 6, 2017
Nomenclature and definition in asymmetric regional body overgrowthJennifer M Kalish, Leslie G Biesecker, Frederic Brioude, et al.
American Journal of Human Genetics|April 8, 2026
Measuring disease likelihood in genomic ascertainmentJulie C Sapp, Katie L Lewis, Emily W Modlin, et al.
European Journal of Cancer (Oxford, England : 1990)|July 17, 2013
The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patientsSaskia M J Hopman, Johannes H M Merks, Corianne A J M de Borgie, et al.
Pageof 48

Showing results (401-410 of 475) with videos related to

Sort By:
Pageof 48
Human Molecular Genetics|July 18, 2022
Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibilityJennifer J Johnston, Robert T Dirksen, Thierry Girard, et al.
Genome Medicine|January 2, 2020
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation frameworkSarah E Brnich, Ahmad N Abou Tayoun, Fergus J Couch, et al.
American Journal of Human Genetics|February 27, 2019
Pharmacodynamic Study of Miransertib in Individuals with Proteus SyndromeKim M Keppler-Noreuil, Julie C Sapp, Marjorie J Lindhurst, et al.
BMC Genomics|March 18, 2014
Identification of candidate genes involved in coronary artery calcification by transcriptome sequencing of cell linesShurjo K Sen, Jennifer J Barb, Praveen F Cherukuri, et al.
Journal of Clinical Pharmacology|July 6, 2026
Genome Sequencing Enhances Precision and Clinical Utility of Pharmacogenetic Data Compared to ArraysIbrahim Numanagić, Morgan Similuk, Tristan M Sissung, et al.
Journal of Medical Genetics|January 17, 2014
A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndromeTaraneh Esmailpour, Hamidreza Riazifar, Linan Liu, et al.
The Journal of Clinical Endocrinology and Metabolism|September 2, 2020
Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic AmenorrheaAngela Delaney, Adam B Burkholder, Christopher A Lavender, et al.
American Journal of Medical Genetics. Part A|May 6, 2017
Nomenclature and definition in asymmetric regional body overgrowthJennifer M Kalish, Leslie G Biesecker, Frederic Brioude, et al.
American Journal of Human Genetics|April 8, 2026
Measuring disease likelihood in genomic ascertainmentJulie C Sapp, Katie L Lewis, Emily W Modlin, et al.
European Journal of Cancer (Oxford, England : 1990)|July 17, 2013
The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patientsSaskia M J Hopman, Johannes H M Merks, Corianne A J M de Borgie, et al.
Pageof 48