Detalhe da pesquisa
1.
Uniparental disomy of multiple chromosomes in two cases with a complex phenotype.
Am J Med Genet A
; 191(7): 1978-1983, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37134191
2.
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Genet Med
; 23(4): 653-660, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33299146
3.
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Genet Med
; 23(4): 796, 2021 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-33686260
4.
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.
J Clin Invest
; 131(6)2021 03 15.
Artigo
Inglês
| MEDLINE | ID: mdl-33497358
5.
X-Linked Candidate Genes for a Ciliopathy-Like Disorder.
Mol Syndromol
; 7(1): 37-42, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-27194972
6.
aldh7a1 regulates eye and limb development in zebrafish.
PLoS One
; 9(7): e101782, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-25004007