Detalhe da pesquisa
1.
Neuropsychological assessment of adults with phenylketonuria using the NIH toolbox.
Mol Genet Metab
; 139(1): 107579, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37099821
2.
Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency.
Mol Genet Metab
; 123(3): 317-325, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29279279
3.
Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study.
Nat Metab
; 3(8): 1125-1132, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34294923
4.
Publisher Correction: Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study.
Nat Metab
; 4(9): 1214, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35974248
5.
Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci.
Mol Autism
; 3: 2, 2012 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-22472195
6.
A novel sporadic 614-Kb duplication of the 22q11.2 chromosome in a child with amyoplasia.
J Child Neurol
; 26(8): 1005-8, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21572057
7.
A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis.
Autism Res
; 4(3): 221-7, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21360829