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Boy, Raquel
88
results:
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Online (88)
Mediatypes
Articles (Online) (32)
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OpenAccess-fulltext (55)
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1
Low‐pass whole genome sequencing as a cost‐effective altern..:
Mazzonetto, Patricia C.
;
Villela, Darine
;
Krepischi, Ana C. V.
...
American Journal of Medical Genetics Part A. , 2024
Link:
https://doi.org/10.1002/..
?
2
A novel Xp11.22 duplication involving HUWE1 in a male with ..:
Santos-Rebouças, Cíntia B.
;
Boy, Raquel
;
Fernandes, Gabriela N.S.
...
European Journal of Medical Genetics. 66 (2023) 4 - p. 104716 , 2023
Link:
https://doi.org/10.1016/..
?
3
Molecular and clinical insights into complex genomic rearra..:
Abdala, Bianca Barbosa
;
Gonçalves, Andressa Pereira
;
dos Santos, Jussara Mendonça
...
European Journal of Medical Genetics. 64 (2021) 12 - p. 104367 , 2021
Link:
https://doi.org/10.1016/..
?
4
Skewed X-Chromosome Inactivation and Compensatory Upregulat..:
Santos-Rebouças, Cíntia B.
;
Boy, Raquel
;
Vianna, Evelyn Q.
...
Frontiers in Genetics. 11 (2020) - p. , 2020
Link:
https://doi.org/10.3389/..
?
5
Evaluation of plasma biomarkers of inflammation in patients..:
Scaini, Giselli
;
Tonon, Tássia
;
Moura de Souza, Carolina F.
...
Journal of Inherited Metabolic Disease. 41 (2018) 4 - p. 631-640 , 2018
Link:
https://doi.org/10.1007/..
?
6
Correction: Biotinidase deficiency: Genotype-biochemical ph..:
Borsatto, Taciane
;
Sperb-Ludwig, Fernanda
;
Lima, Samyra E.
...
PLOS ONE. 12 (2017) 6 - p. e0180463 , 2017
Link:
https://doi.org/10.1371/..
?
7
Biotinidase deficiency: Genotype-biochemical phenotype asso..:
Borsatto, Taciane
;
Sperb-Ludwig, Fernanda
;
Lima, Samyra E.
...
PLOS ONE. 12 (2017) 5 - p. e0177503 , 2017
Link:
https://doi.org/10.1371/..
?
8
GNPTAB missense mutations cause loss of GlcNAc-1-phosphotra..:
Ludwig, Nataniel Floriano
;
Velho, Renata Voltolini
;
Sperb-Ludwig, Fernanda
...
The International Journal of Biochemistry & Cell Biology. 92 (2017) - p. 90-94 , 2017
Link:
https://doi.org/10.1016/..
?
9
Medical Costs Related to Enzyme Replacement Therapy for Muc..:
Bitencourt, Fernanda Hendges de
;
Vieira, Taiane Alves
;
Steiner, Carlos Eduardo
...
Value in Health Regional Issues. 8 (2015) - p. 99-106 , 2015
Link:
https://doi.org/10.1016/..
?
10
MPS Brazil Network: An efficient tool to identify MPS patie..:
Giugliani, Roberto
;
Acosta, Angelina
;
Toralles, Maria Betânia
...
Molecular Genetics and Metabolism. 108 (2013) 2 - p. S43-S44 , 2013
Link:
https://doi.org/10.1016/..
?
11
Treating Niemann-pick type C in Brazil: follow-up of 28 pat..:
Lourenco, Charles
;
Van der Linden, Vanessa
;
Santos, Mara
...
Molecular Genetics and Metabolism. 102 (2011) 2 - p. S26-S27 , 2011
Link:
https://doi.org/10.1016/..
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12
Ethical issues related to the access to orphan drugs in Bra..:
Boy, Raquel
;
Schwartz, Ida V D
;
Krug, Bárbara C
...
Journal of Medical Ethics. 37 (2011) 4 - p. 233-239 , 2011
Link:
https://doi.org/10.1136/..
?
13
Ethical issues related to the access to orphan drugs in Bra..:
Boy, Raquel
;
Schwartz, Ida V D
;
Krug, Bárbara C
...
Journal of Medical Ethics. 37 (2011) 4 - p. 233-239 , 2011
Link:
https://www.jstor.org/st..
?
14
Differential diagnosis of Smith–Magenis syndrome: 1p36 dele..:
Vieira, Gustavo H.
;
Rodriguez, Jayson D.
;
Boy, Raquel
...
American Journal of Medical Genetics Part A. 155 (2011) 5 - p. 988-992 , 2011
Link:
https://doi.org/10.1002/..
?
15
Mucopolysaccharidoses in Brazil: What happens from birth to..:
Vieira, Taiane
;
Schwartz, Ida
;
Muñoz, Verónica
...
American Journal of Medical Genetics Part A. 146A (2008) 13 - p. 1741-1747 , 2008
Link:
https://doi.org/10.1002/..
1-15