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Osvaldo Artigalás
119  Ergebnisse:
Personensuche X
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1

Challenges in periodic revision of genetic testing results:..:

Andreis, Tiago Finger ; de Souza, Kayana Isabel Weber ; Vieira, Igor Araujo...
Gene.  862 (2023)  - p. 147281 , 2023
Link: https://doi.org/10.1016/..
 
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2

CYP26B1-related disorder: expanding the ends of the spectru..:

Silveira, Karina C. ; Fonseca, Inara Chacon ; Oborn, Connor...
Human Genetics.  142 (2023)  11 - p. 1571-1586 , 2023
Link: https://doi.org/10.1007/..
 
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3

GALACTOSE EPIMERASE DEFICIENCY IN LATIN AMERICA – UNVEILING..:

Medeiros, Leonardo Simão ; De Souza, Carolina Fischinger Moura ; Artigalás, Osvaldo...
Molecular Genetics and Metabolism.  138 (2023)  3 - p. 107487 , 2023
Link: https://doi.org/10.1016/..
 
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4

Clinical and molecular characterization of patients fulfill..:

Matzenbacher Bittar, Camila ; de Araújo Rocha, Yasminne Marinho ; Vieira, Igor Araujo...
PLOS ONE.  16 (2021)  9 - p. e0251639 , 2021
Link: https://doi.org/10.1371/..
 
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5

Elevated holo‐transcobalamin in Gaucher disease type II: A ..:

Basgalupp, Suelen Porto ; Donis, Karina Carvalho ; Siebert, Marina...
American Journal of Medical Genetics Part A.  185 (2021)  8 - p. 2471-2476 , 2021
Link: https://doi.org/10.1002/..
 
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6

TP53 variants of uncertain significance: increasing challen..:

Bittar, Camila Matzenbacher ; Vieira, Igor Araujo ; Sabato, Cristina Silva...
Familial Cancer.  18 (2019)  4 - p. 451-456 , 2019
Link: https://doi.org/10.1007/..
 
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7

Correction: BRCA1 and BRCA2 mutational profile and prevalen..:

Alemar, Bárbara ; Gregório, Cleandra ; Herzog, Josef...
PLOS ONE.  13 (2018)  5 - p. e0197529 , 2018
Link: https://doi.org/10.1371/..
 
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8

CBS mutations are good predictors for B6‐responsiveness: A ..:

Poloni, Soraia ; Sperb‐Ludwig, Fernanda ; Borsatto, Taciane...
Molecular Genetics & Genomic Medicine.  6 (2018)  2 - p. 160-170 , 2018
Link: https://doi.org/10.1002/..
 
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9

Screening and characterization of BRCA2 c.156_157insAlu in ..:

Felicio, Paula Silva ; Alemar, Barbara ; Coelho, Aline Silva...
Cancer Genetics.  228-229 (2018)  - p. 93-97 , 2018
Link: https://doi.org/10.1016/..
 
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10

Efficacy and safety of intravenous laronidase for mucopolys..:

Dornelles, Alícia Dorneles ; Artigalás, Osvaldo ; da Silva, André Anjos...
PLOS ONE.  12 (2017)  8 - p. e0184065 , 2017
Link: https://doi.org/10.1371/..
 
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11

BRCA1 and BRCA2 mutational profile and prevalence in heredi..:

Alemar, Bárbara ; Gregório, Cleandra ; Herzog, Josef...
PLOS ONE.  12 (2017)  11 - p. e0187630 , 2017
Link: https://doi.org/10.1371/..
 
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12

Prevalence of Hispanic BRCA1 and BRCA2 mutations among here..:

Alemar, Bárbara ; Herzog, Josef ; Brinckmann Oliveira Netto, Cristina...
Cancer Genetics.  209 (2016)  9 - p. 417-422 , 2016
Link: https://doi.org/10.1016/..
 
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13

Influence of CYP19A1 polymorphisms on the treatment of brea..:

Artigalás, Osvaldo ; Vanni, Tazio ; Hutz, Mara Helena..
BMC Medicine.  13 (2015)  1 - p. , 2015
Link: https://doi.org/10.1186/..
 
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14

Brain magnetic resonance imaging findings in patients with ..:

Azevedo, Ana C. M. ; Artigalás, Osvaldo ; Vedolin, Leonardo...
Journal of Inherited Metabolic Disease.  36 (2012)  2 - p. 357-362 , 2012
Link: https://doi.org/10.1007/..
 
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15

Cloramphenicol: A pharmacological chaperone?:

Giugliani, Roberto ; Mayer, Fabiana ; Artigalas, Osvaldo...
Molecular Genetics and Metabolism.  105 (2012)  2 - p. S30-S31 , 2012
Link: https://doi.org/10.1016/..
 
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