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Leistner-Segal, Sandra
327
results:
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Online (327)
Mediatypes
Articles (Online) (89)
OpenAccess-fulltext (238)
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english (178)
portuguese (140)
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1
Prenatal diagnosis of Pompe disease:
Netto, Alice Brinckmann Oliveira
;
Brusius-Facchin, Ana Carolina
;
Leistner-Segal, Sandra
...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107035 , 2023
Link:
https://doi.org/10.1016/..
?
2
Hereditary hemochromatosis beyond hyperferritinemia: Clinic..:
Kersting, Nathalia
;
Fontana, Juliana Cristine
;
Athayde, Fabiane Pohlmann de
...
Genetics and Molecular Biology. 46 (2023) 2 - p. , 2023
Link:
https://doi.org/10.1590/..
?
3
A Brazilian patient with late infantile metachromatic leuko..:
Faqueti, Larissa
;
Iop, Gabrielle
;
da Silva, Layzon Antonio Lemos
...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107094 , 2023
Link:
https://doi.org/10.1016/..
?
4
Utilization of next generation sequencing technology for de..:
Netto, Alice Brinckmann Oliveira
;
Brusius-Facchin, Ana Carolina
;
Leistner-Segal, Sandra
..
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107036 , 2023
Link:
https://doi.org/10.1016/..
?
5
Prevalence of thrombophilia-associated genetic risk factors..:
Dick-Guareschi, Jéssica
;
Fontana, Juliana Cristine
;
Sanseverino, Maria Teresa Vieira
...
Hematology, Transfusion and Cell Therapy. 44 (2022) 3 - p. 379-385 , 2022
Link:
https://doi.org/10.1016/..
?
6
Methylation of BDNF and SLC6A4 Gene Promoters in Brazilian ..:
Bandeira, Isabel Cristina
;
Giombelli, Lucas
;
Werlang, Isabel Cristina
...
Frontiers in Integrative Neuroscience. 15 (2021) - p. , 2021
Link:
https://doi.org/10.3389/..
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7
Detection of Mosaic Variants in Mothers of MPS II Patients ..:
Oliveira Netto, Alice Brinckmann
;
Brusius-Facchin, Ana Carolina
;
Leistner-Segal, Sandra
...
Frontiers in Molecular Biosciences. 8 (2021) - p. , 2021
Link:
https://doi.org/10.3389/..
?
8
Updated birth prevalence and relative frequency of mucopoly..:
Josahkian, Juliana Alves
;
Trapp, Franciele Barbosa
;
Burin, Maira Graeff
...
Genetics and Molecular Biology. 44 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1590/..
?
9
Correction to: Genetic Analysis of Hereditary Ataxias in Pe..:
on behalf of Rede Neurogenetica
;
Cornejo-Olivas, Mario
;
Inca-Martinez, Miguel
...
The Cerebellum. 19 (2020) 2 - p. 216-216 , 2020
Link:
https://doi.org/10.1007/..
?
10
Diagnosis of Mucopolysaccharidoses:
Kubaski, Francyne
;
de Oliveira Poswar, Fabiano
;
Michelin-Tirelli, Kristiane
...
Diagnostics. 10 (2020) 3 - p. 172 , 2020
Link:
https://doi.org/10.3390/..
?
11
Is the gut microbiota dysbiotic in patients with classical ..:
Rizowy, Gustavo Mottin
;
Poloni, Soraia
;
Colonetti, Karina
...
Biochimie. 173 (2020) - p. 3-11 , 2020
Link:
https://doi.org/10.1016/..
?
12
Genetic Analysis of Hereditary Ataxias in Peru Identifies S..:
on behalf of Rede Neurogenetica
;
Cornejo-Olivas, Mario
;
Inca-Martinez, Miguel
...
The Cerebellum. 19 (2020) 2 - p. 208-215 , 2020
Link:
https://doi.org/10.1007/..
?
13
Glatiramer acetate increases T- and B -regulatory cells and..:
Aharoni, Rina
;
Eilam, Raya
;
Schottlender, Nofar
...
Journal of Neuroimmunology. 345 (2020) - p. 577281 , 2020
Link:
https://doi.org/10.1016/..
?
14
MPS Brazil Network: A summary of all mucopolysaccharidosis ..:
Kubaski, Francyne
;
Zambrano, Marina
;
Giugliani, Luciana
...
Molecular Genetics and Metabolism. 126 (2019) 2 - p. S88 , 2019
Link:
https://doi.org/10.1016/..
?
15
Polymorphic variants (p.Ser141Ser and p.Arg737Gly) at the N..:
Rojas Malaga, Diana
;
Leistner-Segal, Sandra
;
Brusius-Facchin, Ana Carolina
Italian Journal of Pediatrics. 45 (2019) 1 - p. , 2019
Link:
https://doi.org/10.1186/..
1-15