Detalhe da pesquisa
1.
Real world outcomes and implementation pathways of exome sequencing in an adult genetic department.
Genet Med;
24(7): 1536-1544, 2022 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35416776
2.
The severe epilepsy syndromes of infancy: A population-based study.
Epilepsia;
62(2): 358-370, 2021 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33475165
3.
OCD symptoms in succinic semialdehyde dehydrogenase (SSADH) deficiency: a case report.
BMC Psychiatry;
20(1): 395, 2020 08 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32758201
4.
The effect of improved dietary control on cognitive and psychiatric functioning in adults with phenylketonuria: the ReDAPT study.
Orphanet J Rare Dis;
16(1): 35, 2021 01 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33461585
5.
Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder.
Neurol Genet;
7(2): e579, 2021 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33912662
6.
Psychiatric and Cognitive Aspects of Phenylketonuria: The Limitations of Diet and Promise of New Treatments.
Front Psychiatry;
10: 561, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31551819