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William L Macken

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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|October 15, 2019
PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literatureWilliam L Macken, Marc Tischkowitz, Katherine L Lachlan
Nature Reviews. Neurology|February 24, 2021
Applying genomic and transcriptomic advances to mitochondrial medicineWilliam L Macken, Jana Vandrovcova, Michael G Hanna, et al.
Journal of Medical Ethics|June 20, 2023
Discussion of off-target and tentative genomic findings may sometimes be necessary to allow evaluation of their clinical significanceRachel H Horton, William L Macken, Robert D S Pitceathly, et al.
Archives of Disease in Childhood|March 6, 2019
Percutaneous endoscopic gastrostomy for refractory epilepsy and medication refusalCaoimhe Howard, William L Macken, Ann Connolly, et al.
Genes|October 23, 2021
Mitochondrial Strokes: Diagnostic Challenges and ChameleonsChiara Pizzamiglio, Enrico Bugiardini, William L Macken, et al.
Human Genomics|December 5, 2024
An analysis of mitochondrial variation in cardiomyopathy patients from the 100,000 genomes cohort: m.4300A>G as a cause of genetically elusive hypertrophic cardiomyopathyLuis R Lopes, William L Macken, Seth Du Preez, et al.
Expert Review of Molecular Diagnostics|August 29, 2023
Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implicationsWilliam L Macken, Micol Falabella, Chiara Pizzamiglio, et al.
Annals of Indian Academy of Neurology|October 21, 2024
Phenotypic, Electrophysiologic, and Imaging Spectrum of Hirayama Disease from Northern IndiaSaranya B Gomathy, Yamini Priyanka, Ajay Garg, et al.
Genome Medicine|February 26, 2021
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephalyWilliam L Macken, Annie Godwin, Gabrielle Wheway, et al.
Journal of Neuromuscular Diseases|May 5, 2025
Kennedy's disease from India: An Indian Cohort with multisystemic manifestationsSaranya B Gomathy, William L Macken, Nimita Rani, et al.
Pageof 2

Showing results (1-10 of 20) with videos related to

Sort By:
Pageof 2
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|October 15, 2019
PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literatureWilliam L Macken, Marc Tischkowitz, Katherine L Lachlan
Nature Reviews. Neurology|February 24, 2021
Applying genomic and transcriptomic advances to mitochondrial medicineWilliam L Macken, Jana Vandrovcova, Michael G Hanna, et al.
Journal of Medical Ethics|June 20, 2023
Discussion of off-target and tentative genomic findings may sometimes be necessary to allow evaluation of their clinical significanceRachel H Horton, William L Macken, Robert D S Pitceathly, et al.
Archives of Disease in Childhood|March 6, 2019
Percutaneous endoscopic gastrostomy for refractory epilepsy and medication refusalCaoimhe Howard, William L Macken, Ann Connolly, et al.
Genes|October 23, 2021
Mitochondrial Strokes: Diagnostic Challenges and ChameleonsChiara Pizzamiglio, Enrico Bugiardini, William L Macken, et al.
Human Genomics|December 5, 2024
An analysis of mitochondrial variation in cardiomyopathy patients from the 100,000 genomes cohort: m.4300A>G as a cause of genetically elusive hypertrophic cardiomyopathyLuis R Lopes, William L Macken, Seth Du Preez, et al.
Expert Review of Molecular Diagnostics|August 29, 2023
Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implicationsWilliam L Macken, Micol Falabella, Chiara Pizzamiglio, et al.
Annals of Indian Academy of Neurology|October 21, 2024
Phenotypic, Electrophysiologic, and Imaging Spectrum of Hirayama Disease from Northern IndiaSaranya B Gomathy, Yamini Priyanka, Ajay Garg, et al.
Genome Medicine|February 26, 2021
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephalyWilliam L Macken, Annie Godwin, Gabrielle Wheway, et al.
Journal of Neuromuscular Diseases|May 5, 2025
Kennedy's disease from India: An Indian Cohort with multisystemic manifestationsSaranya B Gomathy, William L Macken, Nimita Rani, et al.
Pageof 2