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Ana Cotta

Showing results (11-20 of 14) with videos related to

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JIMD Reports|July 21, 2020
Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic <i>COQ8A</i> variants, including a large intragenic deletionAna Cotta, Charlotte L Alston, Sidney Baptista-Junior, et al.
Clinical Genetics|July 17, 2024
Clinical and molecular characterization of limb-girdle muscular dystrophy 2G/R7 in a large cohort of Brazilian patientsTobias Gaviraghi, Eduardo B U Cavalcanti, Paulo José Lorenzoni, et al.
The EMBO Journal|October 31, 2020
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiencyDenisa Hathazi, Helen Griffin, Matthew J Jennings, et al.
Clinical Genetics|July 4, 2019
Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophyPablo B Winckler, André M S da Silva, Antônio R Coimbra-Neto, et al.
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Showing results (11-20 of 14) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 14 results.
JIMD Reports|July 21, 2020
Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic <i>COQ8A</i> variants, including a large intragenic deletionAna Cotta, Charlotte L Alston, Sidney Baptista-Junior, et al.
Clinical Genetics|July 17, 2024
Clinical and molecular characterization of limb-girdle muscular dystrophy 2G/R7 in a large cohort of Brazilian patientsTobias Gaviraghi, Eduardo B U Cavalcanti, Paulo José Lorenzoni, et al.
The EMBO Journal|October 31, 2020
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiencyDenisa Hathazi, Helen Griffin, Matthew J Jennings, et al.
Clinical Genetics|July 4, 2019
Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophyPablo B Winckler, André M S da Silva, Antônio R Coimbra-Neto, et al.
Pageof 2