Detalhe da pesquisa
1.
Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study.
Mol Genet Metab
; 133(1): 94-99, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33678523
2.
Genomic imbalances in craniofacial microsomia.
Am J Med Genet C Semin Med Genet
; 184(4): 970-985, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33215817
3.
The phenotypic spectrum of congenital Zika syndrome.
Am J Med Genet A
; 173(4): 841-857, 2017 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-28328129
4.
Possible Association Between Zika Virus Infection and Microcephaly - Brazil, 2015.
MMWR Morb Mortal Wkly Rep
; 65(3): 59-62, 2016 Jan 29.
Artigo
Inglês
| MEDLINE | ID: mdl-26820244
5.
Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI.
Mol Genet Metab
; 109(1): 62-9, 2013 May.
Artigo
Inglês
| MEDLINE | ID: mdl-23535281
6.
Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.
Eur J Pediatr
; 172(7): 927-45, 2013 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-23440478
7.
Language skills development in children with congenital Zika virus syndrome.
Early Hum Dev
; 184: 105842, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37595539
8.
Ethical issues related to the access to orphan drugs in Brazil: the case of mucopolysaccharidosis type I.
J Med Ethics
; 37(4): 233-9, 2011 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-21266385
9.
Identification of genomic imbalances in oral clefts.
J Pediatr (Rio J)
; 97(3): 321-328, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-32707036
10.
Clinical Characterization of Mucolipidoses II and III: A Multicenter Study.
J Pediatr Genet
; 8(4): 198-204, 2019 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-31687257
11.
Sleep findings in Brazilian children with congenital Zika syndrome.
Sleep
; 41(3)2018 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29325155
12.
CranFlow: An Application for Record-Taking and Management Through the Brazilian Database on Craniofacial Anomalies.
Birth Defects Res
; 110(1): 72-80, 2018 01 15.
Artigo
Inglês
| MEDLINE | ID: mdl-28949457
13.
Zika Virus Epidemic in Brazil. II. Post-Mortem Analyses of Neonates with Microcephaly, Stillbirths, and Miscarriage.
J Clin Med
; 7(12)2018 Nov 28.
Artigo
Inglês
| MEDLINE | ID: mdl-30487475
14.
The visual system in infants with microcephaly related to presumed congenital Zika syndrome.
J AAPOS
; 21(4): 300-304.e1, 2017 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-28652051
15.
Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.
PLoS One
; 12(6): e0180463, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28640880
16.
Identification of genomic imbalances in oral clefts
J. pediatr. (Rio J.)
; 97(3): 321-328, May-June 2021. tab
Artigo
Inglês
| LILACS | ID: biblio-1279326