Advanced search
Start date
Betweenand


A 43 years-old patient with Cornelia de Lange Syndrome with NIPBL gene mutation and a mild phenotype

Full text
Author(s):
Vilella, Thaina ; Nunes, Beatriz Carvalho ; Pinheiro, Isabel ; Aoi, Haromi ; Matsumoto, Naomichi ; Kim, Chong ; Melaragno, Maria Isabel
Total Authors: 7
Document type: Journal article
Source: European Journal of Human Genetics; v. 32, p. 1-pg., 2024-01-01.
FAPESP's process: 19/21644-0 - Impact of genetic variants on genomic stability and their effects on the phenotype
Grantee:Maria Isabel de Souza Aranha Melaragno
Support Opportunities: Research Projects - Thematic Grants
FAPESP's process: 22/09582-1 - Assessment of mitotic and genomic stability of lymphoblastoid cells from patients with Cornelia de Lange Syndrome
Grantee:Thainá Vilella Rodrigues Maria
Support Opportunities: Scholarships in Brazil - Doctorate (Direct)