Detalhe da pesquisa
1.
High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.
Hum Mutat
; 37(7): 703-9, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27071356
2.
WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.
Am J Hum Genet
; 85(1): 97-105, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19559398
3.
Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance.
Front Genet
; 13: 934395, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35923710
4.
In-depth characterisation of Retinal Pigment Epithelium (RPE) cells derived from human induced pluripotent stem cells (hiPSC).
Neuromolecular Med
; 16(3): 551-64, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24801942