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Randon, Dévora N.
29
results:
Search for persons
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Format
Online (29)
Mediatypes
Articles (Online) (23)
OpenAccess-fulltext (6)
Sorted by: Relevance
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1
Mortality profile in a cohort of patients with Gaucher dise..:
Teixeira, Lucas Ferreira
;
Poswar, Fabiano
;
Randon, Dévora N.
.
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107825 , 2024
Link:
https://doi.org/10.1016/..
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2
Metab-Latam: Sharing scientific knowledge about lysosomal d..:
Schwartz, Ida Vanessa D.
;
Martínez Bazán, Eliana M.
;
Randon, Dévora N.
...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 108035 , 2024
Link:
https://doi.org/10.1016/..
?
3
COVID-19 pandemic impact on Brazilian patients with lysosom..:
Schwartz, Ida V.D.
;
Randon, Dévora N.
;
Ferraro, Lethicia C.
...
Molecular Genetics and Metabolism. 132 (2021) 2 - p. S97-S98 , 2021
Link:
https://doi.org/10.1016/..
?
4
A decade of molecular diagnosis of Mucolipidosis II and III..:
Ludwig, Nataniel F
;
Sperb-Ludwig, Fernanda
;
Randon, Dévora N
...
Journal of Inborn Errors of Metabolism and Screening. 9 (2021) - p. , 2021
Link:
https://doi.org/10.1590/..
?
5
Pathogenic variants in GNPTAB and GNPTG encoding distinct s..:
Di Lorenzo, Giorgia
;
Westermann, Lena M.
;
Yorgan, Timur A.
...
Genetics in Medicine. 23 (2021) 12 - p. 2369-2377 , 2021
Link:
https://doi.org/10.1038/..
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6
Prevalence of the most common pathogenic variants in three ..:
Randon, Dévora N.
;
Sperb-Ludwig, Fernanda
;
Vianna, Fernanda S. L.
...
Genetics and Molecular Biology. 43 (2020) 3 - p. , 2020
Link:
https://doi.org/10.1590/..
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7
COVID-19 pandemic impact on Brazilian patients with lysosom..:
Schwartz, Ida V.D
;
Randon, Dévora N
;
Ferraro, Lethicia C
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7849532/. , 2021
Link:
http://www.ncbi.nlm.nih...
?
8
A decade of molecular diagnosis of Mucolipidosis II and III..:
Ludwig, Nataniel F
;
Sperb-Ludwig, Fernanda
;
Randon, Dévora N
...
10.1590/2326-4594-jiems-2020-0029. , 2021
Link:
http://www.scielo.br/sci..
?
9
Prevalence of the most common pathogenic variants in three ..:
Randon, Dévora N
;
Sperb-Ludwig, Fernanda
;
Vianna, Fernanda S. L
...
10.1590/1678-4685-gmb-2019-0298. , 2020
Link:
http://www.scielo.br/sci..
?
10
A decade of molecular diagnosis of Mucolipidosis II and III..:
Nataniel F Ludwig
;
Fernanda Sperb-Ludwig
;
Dévora N Randon
...
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100402&tlng=en. , 2021
Link:
https://doi.org/10.1590/..
?
11
Prevalence of the most common pathogenic variants in three ..:
Dévora N. Randon
;
Fernanda Sperb-Ludwig
;
Fernanda S. L. Vianna
...
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000500104&tlng=en. , 2020
Link:
https://doi.org/10.1590/..
?
12
Prevalence of the most common pathogenic variants in three ..:
Dévora N. Randon (10469514)
;
Fernanda Sperb-Ludwig (4022951)
;
Fernanda S. L. Vianna (10469517)
...
https://figshare.com/articles/dataset/Prevalence_of_the_most_common_pathogenic_variants_in_three_genes_for_inborn_errors_of_metabolism_associated_with_sudden_unexpected_death_in_infancy_a_population-based_study_in_south_Brazil/14320431. , 2020
Link:
https://doi.org/10.6084/..
?
13
Follow-up of pre-motor symptoms of Parkinson's disease in a..:
Wilke, Matheus Vernet Machado Bressan
;
Poswar, Fabiano
;
Borelli, Wyllians Vendramini
...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
?
14
Medium-chain acyl-CoA dehydrogenase deficiency: prevalence ..:
dos Santos, Mariana Lopes
;
Randon, Dévora Natalia
;
de Bitencourt, Fernanda Hendges
...
Reproductive and Developmental Medicine. 6 (2022) 2 - p. 92-97 , 2022
Link:
https://doi.org/10.1097/..
?
15
SARS‐CoV‐2 pandemic in the Brazilian community of rare dise..:
Schwartz, Ida Vanessa Doederlein
;
Randon, Dévora Natalia
;
Monsores, Natan
...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 187 (2021) 3 - p. 301-311 , 2021
Link:
https://doi.org/10.1002/..
1-15