Detalhe da pesquisa
1.
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Am J Hum Genet
; 110(2): 215-227, 2023 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36586412
2.
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.
Genet Med
; 25(7): 100839, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37057675
3.
Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants.
Am J Med Genet A
; 185(9): 2829-2845, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34056834
4.
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
HGG Adv
; 5(2): 100273, 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38297832
5.
Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features.
medRxiv
; 2023 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37808847
6.
Pitfalls in Genetic Testing for Consanguineous Pediatric Populations.
Case Rep Genet
; 2022: 9393042, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35663206
7.
Gene therapy: perspectives from young adults with Leber's congenital amaurosis.
Eye (Lond)
; 36(11): 2088-2093, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34531550
8.
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Eur J Hum Genet
; 28(10): 1422-1431, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32483341
9.
Correction: Gene therapy: perspectives from young adults with Leber's congenital amaurosis.
Eye (Lond)
; 36(11): 2228, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35217829
10.
Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer.
Clin Dysmorphol
; 26(2): 117-120, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27541980