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Emma L Baple

Showing results (21-30 of 93) with videos related to

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BMC Medical Genetics|September 12, 2018
Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literatureSiying Lin, Gaurav V Harlalka, Abdul Hameed, et al.
Cell Death Discovery|April 3, 2024
Autophagy dysregulation via the USP20-ULK1 axis in the HERC2-related neurodevelopmental disorderJoan Sala-Gaston, Eva M Pérez-Villegas, José A Armengol, et al.
European Journal of Human Genetics : EJHG|May 12, 2026
Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohortAlistair T Pagnamenta, James Fasham, Robin N Beaumont, et al.
Human Mutation|March 9, 2017
Single-base substitutions in the CHM promoter as a cause of choroideremiaAlina Radziwon, Gavin Arno, Dianna K Wheaton, et al.
BMC Neurology|October 16, 2024
Expanding the genetic spectrum of hereditary motor sensory neuropathies in PakistanAsif Naveed Ahmed, Lettie E Rawlins, Niamat Khan, et al.
BMC Medical Genetics|December 20, 2019
Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous familiesShazia Khan, Lettie E Rawlins, Gaurav V Harlalka, et al.
Cellular and Molecular Life Sciences : CMLS|October 14, 2022
HERC2 deficiency activates C-RAF/MKK3/p38 signalling pathway altering the cellular response to oxidative stressJoan Sala-Gaston, Leonardo Pedrazza, Juanma Ramirez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 1, 2025
Response to Haliloğlu et alLettie E Rawlins, Stuart J Cannon, Bilal Ahmad Mian, et al.
BMC Neurology|September 20, 2024
Investigating the genetic basis of hereditary spastic paraplegia and cerebellar Ataxia in Pakistani familiesArfa Azeem, Asif Naveed Ahmed, Niamat Khan, et al.
Plos Genetics|November 20, 2020
No association between SCN9A and monogenic human epilepsy disordersJames Fasham, Joseph S Leslie, Jamie W Harrison, et al.
Pageof 10

Showing results (21-30 of 93) with videos related to

Sort By:
Pageof 10
BMC Medical Genetics|September 12, 2018
Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literatureSiying Lin, Gaurav V Harlalka, Abdul Hameed, et al.
Cell Death Discovery|April 3, 2024
Autophagy dysregulation via the USP20-ULK1 axis in the HERC2-related neurodevelopmental disorderJoan Sala-Gaston, Eva M Pérez-Villegas, José A Armengol, et al.
European Journal of Human Genetics : EJHG|May 12, 2026
Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohortAlistair T Pagnamenta, James Fasham, Robin N Beaumont, et al.
Human Mutation|March 9, 2017
Single-base substitutions in the CHM promoter as a cause of choroideremiaAlina Radziwon, Gavin Arno, Dianna K Wheaton, et al.
BMC Neurology|October 16, 2024
Expanding the genetic spectrum of hereditary motor sensory neuropathies in PakistanAsif Naveed Ahmed, Lettie E Rawlins, Niamat Khan, et al.
BMC Medical Genetics|December 20, 2019
Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous familiesShazia Khan, Lettie E Rawlins, Gaurav V Harlalka, et al.
Cellular and Molecular Life Sciences : CMLS|October 14, 2022
HERC2 deficiency activates C-RAF/MKK3/p38 signalling pathway altering the cellular response to oxidative stressJoan Sala-Gaston, Leonardo Pedrazza, Juanma Ramirez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 1, 2025
Response to Haliloğlu et alLettie E Rawlins, Stuart J Cannon, Bilal Ahmad Mian, et al.
BMC Neurology|September 20, 2024
Investigating the genetic basis of hereditary spastic paraplegia and cerebellar Ataxia in Pakistani familiesArfa Azeem, Asif Naveed Ahmed, Niamat Khan, et al.
Plos Genetics|November 20, 2020
No association between SCN9A and monogenic human epilepsy disordersJames Fasham, Joseph S Leslie, Jamie W Harrison, et al.
Pageof 10