Detalhe da pesquisa
1.
Genotype-phenotype correlation in Phelan-McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes.
Am J Med Genet A
; 185(7): 2211-2233, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33949759
2.
Phenotypic spectrum of NRXN1 mono- and bi-allelic deficiency: A systematic review.
Clin Genet
; 97(1): 125-137, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30873608
3.
Huntingtin gene CAG repeat size affects autism risk: Family-based and case-control association study.
Am J Med Genet B Neuropsychiatr Genet
; 183(6): 341-351, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32652810
4.
Germline NGS targeted analysis in adult patients with sporadic adrenocortical carcinoma.
Eur J Cancer
; 205: 114088, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38714106
5.
RNA sequencing of blood from sex- and age-matched discordant siblings supports immune and transcriptional dysregulation in autism spectrum disorder.
Sci Rep
; 13(1): 807, 2023 01 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36646776
6.
Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder.
Mol Genet Genomic Med
; 11(8): e2182, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37186221
7.
Yield of array-CGH analysis in Tunisian children with autism spectrum disorder.
Mol Genet Genomic Med
; 10(8): e1939, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35762097
8.
Appropriateness of array-CGH in the ADHD clinics: A comparative study.
Genes Brain Behav
; 19(6): e12651, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32141190
9.
FARP-1 deletion is associated with lack of response to autism treatment by early start denver model in a multiplex family.
Mol Genet Genomic Med
; 8(9): e1373, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32588496
10.
An Interstitial 17q11.2 de novo Deletion Involving the CDK5R1 Gene in a High-Functioning Autistic Patient.
Mol Syndromol
; 9(5): 247-252, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30733659