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Lettie E Rawlins

Showing results (1-10 of 22) with videos related to

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Clinical Dysmorphology|March 7, 2017
De novo SETD5 nonsense mutation associated with diaphragmatic hernia and severe cerebral cortical dysplasiaLettie E Rawlins, Karen L Stals, Julian D Eason, 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.
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.
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.
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.
BMC Ophthalmology|May 10, 2023
Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous familiesMuhammad Marwan, Muhammad Dawood, Mukhtar Ullah, et al.
European Journal of Human Genetics : EJHG|January 10, 2019
An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasiaLettie E Rawlins, Hannah Jones, Olivia Wenger, et al.
BMC Neurology|June 5, 2026
Expanding the genetic spectrum of autosomal recessive microcephaly in Pakistani familiesBilal Ahmad, Matthew Adams, Iram Javed, et al.
Pageof 3

Showing results (1-10 of 22) with videos related to

Sort By:
Pageof 3
Clinical Dysmorphology|March 7, 2017
De novo SETD5 nonsense mutation associated with diaphragmatic hernia and severe cerebral cortical dysplasiaLettie E Rawlins, Karen L Stals, Julian D Eason, 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.
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.
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.
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.
BMC Ophthalmology|May 10, 2023
Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous familiesMuhammad Marwan, Muhammad Dawood, Mukhtar Ullah, et al.
European Journal of Human Genetics : EJHG|January 10, 2019
An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasiaLettie E Rawlins, Hannah Jones, Olivia Wenger, et al.
BMC Neurology|June 5, 2026
Expanding the genetic spectrum of autosomal recessive microcephaly in Pakistani familiesBilal Ahmad, Matthew Adams, Iram Javed, et al.
Pageof 3