Detalhe da pesquisa
1.
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
Am J Hum Genet
; 110(4): 681-690, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36996813
2.
Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature.
Neurogenetics
; 2024 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38652341
3.
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
J Med Genet
; 60(12): 1224-1234, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37586838
4.
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.
Neurogenetics
; 22(1): 19-25, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32816121
5.
Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant - A Case Report and a Brief Review of the Literature.
Mol Syndromol
; 15(1): 63-70, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38357260
6.
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature.
Genes (Basel)
; 12(7)2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34206215
7.
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum.
Genes (Basel)
; 12(8)2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34440382
8.
A novel ABCC6 variant causative of pseudoxanthoma elasticum.
Hum Genome Var
; 6: 30, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31240106
9.
Iron and Ferritin Modulate MHC Class I Expression and NK Cell Recognition.
Front Immunol
; 10: 224, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30873154