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Showing results (231-240 of 269) with videos related to

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Molecular Genetics and Metabolism|August 31, 2015
Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagineElizabeth Emma Palmer, Jaclyn Hayner, Rani Sachdev, et al.
Journal of Medical Genetics|December 5, 2023
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridiaHildegard Nikki Hall, David Parry, Mihail Halachev, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|December 13, 2019
Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome RegistryDorothy K Grange, Helen I Roessler, Conor McClenaghan, et al.
Journal of Medical Genetics|May 27, 2019
Pathogenic variants in <i>PLOD3</i> result in a Stickler syndrome-like connective tissue disorder with vascular complicationsLisa Jean Ewans, Alison Colley, Carles Gaston-Massuet, et al.
Human Mutation|May 23, 2020
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathyLisa G Riley, Joëlle Rudinger-Thirion, Magali Frugier, et al.
The Journal of Experimental Medicine|April 17, 2024
Dominant negative OTULIN-related autoinflammatory syndromeSophia Davidson, Yuri Shibata, Sophie Collard, et al.
Nature Communications|July 23, 2014
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndromeDanielle C Lynch, Timothée Revil, Jeremy Schwartzentruber, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 30, 2018
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disordersLisa J Ewans, Deborah Schofield, Rupendra Shrestha, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
Identification of clinically actionable variants from genome sequencing of families with congenital heart diseaseDimuthu Alankarage, Eddie Ip, Justin O Szot, et al.
HGG Advances|July 7, 2025
Haploinsufficient variants in SMAD5 are associated with isolated congenital heart diseaseDimuthu Alankarage, Iryna Leshchynska, Stephanie Portelli, et al.
Pageof 27

Showing results (231-240 of 269) with videos related to

Sort By:
Pageof 27
Molecular Genetics and Metabolism|August 31, 2015
Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagineElizabeth Emma Palmer, Jaclyn Hayner, Rani Sachdev, et al.
Journal of Medical Genetics|December 5, 2023
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridiaHildegard Nikki Hall, David Parry, Mihail Halachev, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|December 13, 2019
Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome RegistryDorothy K Grange, Helen I Roessler, Conor McClenaghan, et al.
Journal of Medical Genetics|May 27, 2019
Pathogenic variants in <i>PLOD3</i> result in a Stickler syndrome-like connective tissue disorder with vascular complicationsLisa Jean Ewans, Alison Colley, Carles Gaston-Massuet, et al.
Human Mutation|May 23, 2020
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathyLisa G Riley, Joëlle Rudinger-Thirion, Magali Frugier, et al.
The Journal of Experimental Medicine|April 17, 2024
Dominant negative OTULIN-related autoinflammatory syndromeSophia Davidson, Yuri Shibata, Sophie Collard, et al.
Nature Communications|July 23, 2014
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndromeDanielle C Lynch, Timothée Revil, Jeremy Schwartzentruber, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 30, 2018
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disordersLisa J Ewans, Deborah Schofield, Rupendra Shrestha, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
Identification of clinically actionable variants from genome sequencing of families with congenital heart diseaseDimuthu Alankarage, Eddie Ip, Justin O Szot, et al.
HGG Advances|July 7, 2025
Haploinsufficient variants in SMAD5 are associated with isolated congenital heart diseaseDimuthu Alankarage, Iryna Leshchynska, Stephanie Portelli, et al.
Pageof 27