Detalhe da pesquisa
1.
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.
Mol Genet Metab
; 142(1): 108363, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38452608
2.
Phenotypically driven subgroups of ASD display distinct metabolomic profiles.
Brain Behav Immun
; 111: 21-29, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37004757
3.
Mini-review: Current and Future Perspectives on Microbially Focused Restoration Strategies in Tallgrass Prairies.
Microb Ecol
; 85(3): 1087-1097, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36449026
4.
Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency.
Dev Med Child Neurol
; 65(12): 1596-1606, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37246331
5.
Language characterization in 16p11.2 deletion and duplication syndromes.
Am J Med Genet B Neuropsychiatr Genet
; 183(6): 380-391, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32652891
6.
Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational study.
Epilepsia
; 60(12): 2428-2436, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31691264
7.
Developmental trajectories for young children with 16p11.2 copy number variation.
Am J Med Genet B Neuropsychiatr Genet
; 174(4): 367-380, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28349640
8.
Clinical phenotype of the recurrent 1q21.1 copy-number variant.
Genet Med
; 18(4): 341-9, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26066539
9.
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
J Med Genet
; 49(10): 660-8, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23054248
10.
Persistence of Autism Spectrum Disorder From Early Childhood Through School Age.
JAMA Pediatr
; 177(11): 1197-1205, 2023 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37782510
11.
Neurobehavioral Associations with NREM and REM Sleep Architecture in Children with Autism Spectrum Disorder.
Children (Basel)
; 9(9)2022 Aug 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36138632
12.
Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study.
J Child Neurol
; 36(13-14): 1153-1161, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33393837
13.
A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants.
Am J Psychiatry
; 178(1): 77-86, 2021 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33384013
14.
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.
Am J Med Genet B Neuropsychiatr Genet
; 153B(4): 937-47, 2010 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-20468056
15.
Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency.
Neurology
; 95(19): e2675-e2682, 2020 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32887777
16.
Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers.
Autism Res
; 13(8): 1300-1310, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32597026
17.
Impacting development in infants with tuberous sclerosis complex: Multidisciplinary research collaboration.
Am Psychol
; 74(3): 356-367, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30945897
18.
Correction: Psychiatric disorders in children with 16p11.2 deletion and duplication.
Transl Psychiatry
; 9(1): 107, 2019 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30837452
19.
Psychiatric disorders in children with 16p11.2 deletion and duplication.
Transl Psychiatry
; 9(1): 8, 2019 01 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-30664628
20.
Use of complementary and alternative medicine among children diagnosed with autism spectrum disorder.
J Autism Dev Disord
; 37(4): 628-36, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16977497