Detalhe da pesquisa
1.
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
2.
A monoallelic SEC23A variant E599K associated with cranio-lenticulo-sutural dysplasia.
Am J Med Genet A
; 188(1): 319-325, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34580982
3.
Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome.
Genes (Basel)
; 14(3)2023 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36980822
4.
The impact of BMI on long-term anthropometric and metabolic outcomes in girls with idiopathic central precocious puberty treated with GnRHas.
Front Endocrinol (Lausanne)
; 13: 1006680, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36263328
5.
Omenn Syndrome due to RAG1 Mutation Presenting With Nonimmune Hydrops Fetalis in Two Siblings.
Pediatrics
; 149(1)2022 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34889447
6.
Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype-Phenotype Correlation in Females.
Genes (Basel)
; 12(6)2021 06 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34200686
7.
Foot-to-Foot Contact Among Initial Goal-Directed Movements Supports the Prognostic Value of Fidgety Movements in HIE-Cooled Infants.
Front Pediatr
; 9: 731021, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35071123
8.
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.
Genes (Basel)
; 12(7)2021 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34202629