Detalhe da pesquisa
1.
Co-occurring conditions in Down syndrome: Findings from a clinical database.
Am J Med Genet C Semin Med Genet
; 193(4): e32072, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37873945
2.
RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes.
Mol Psychiatry
; 26(5): 1706-1718, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33597717
3.
Unexplained regression in Down syndrome: Management of 51 patients in an international patient database.
Am J Med Genet A
; 188(10): 3049-3062, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35924793
4.
Development and implementation of a longitudinal clinical database for down syndrome in a large pediatric specialty clinic: Methodology and feasibility.
J Intellect Disabil
; : 17446295221133874, 2022 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36245216
5.
Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study.
J Med Internet Res
; 23(3): e21023, 2021 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33724192
6.
Response to Letter to the Editor by Palffy and Ghaziuddin.
Am J Med Genet A
; 191(5): 1470-1473, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36609854
7.
Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants.
Genes (Basel)
; 14(4)2023 03 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37107537
8.
Is Developmental Regression in Down Syndrome Linked to Life Stressors?
J Dev Behav Pediatr
; 43(7): 427-436, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35943343
9.
Similar Rates of Deleterious Copy Number Variants in Early-Onset Psychosis and Autism Spectrum Disorder.
Am J Psychiatry
; 179(11): 853-861, 2022 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36000218