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Giulia F Del Gobbo

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Journal of Neuromuscular Diseases|November 12, 2025
<i>MT-ATP6</i> variant as a cause of adult-onset hereditary spastic paraparesis: A case report and literature reviewLola Er Lessard, Danielle K Bourque, Pierre J Bourque, et al.
American Journal of Medical Genetics. Part A|December 22, 2023
Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual developmentGiulia F Del Gobbo, Xueqi Wang, Madeline Couse, et al.
Annals of Clinical and Translational Neurology|April 7, 2025
FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada ConsortiumAlexanne Cuillerier, Giulia F Del Gobbo, Layla Mackay, et al.
Research Square|July 18, 2023
The application of epiphenotyping approaches to DNA methylation array studies of the human placentaAlmas Khan, Amy M Inkster, Maria S Peñaherrera, et al.
Nature Genetics|June 27, 2024
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locusDavid Pellerin, Giulia F Del Gobbo, Madeline Couse, et al.
Pageof 2

Showing results (11-20 of 15) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 15 results.
Journal of Neuromuscular Diseases|November 12, 2025
<i>MT-ATP6</i> variant as a cause of adult-onset hereditary spastic paraparesis: A case report and literature reviewLola Er Lessard, Danielle K Bourque, Pierre J Bourque, et al.
American Journal of Medical Genetics. Part A|December 22, 2023
Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual developmentGiulia F Del Gobbo, Xueqi Wang, Madeline Couse, et al.
Annals of Clinical and Translational Neurology|April 7, 2025
FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada ConsortiumAlexanne Cuillerier, Giulia F Del Gobbo, Layla Mackay, et al.
Research Square|July 18, 2023
The application of epiphenotyping approaches to DNA methylation array studies of the human placentaAlmas Khan, Amy M Inkster, Maria S Peñaherrera, et al.
Nature Genetics|June 27, 2024
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locusDavid Pellerin, Giulia F Del Gobbo, Madeline Couse, et al.
Pageof 2