Detalhe da pesquisa
1.
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.
Am J Hum Genet
; 106(4): 438-452, 2020 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32197073
2.
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.
Am J Hum Genet
; 99(1): 174-87, 2016 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27392076
3.
Evaluating Toxicity of Chemicals using a Zebrafish Vibration Startle Response Screening System.
J Vis Exp
; (203)2024 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38284527
4.
Loss of autism-candidate CHD8 perturbs neural crest development and intestinal homeostatic balance.
Life Sci Alliance
; 6(1)2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36375841
5.
A dominant vimentin variant causes a rare syndrome with premature aging.
Eur J Hum Genet
; 28(9): 1218-1230, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32066935