Detalhe da pesquisa
1.
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.
Am J Hum Genet
; 98(5): 963-970, 2016 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27087320
2.
A Germline Variant in the PANX1 Gene Has Reduced Channel Function and Is Associated with Multisystem Dysfunction.
J Biol Chem
; 291(24): 12432-12443, 2016 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27129271
3.
Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.
Brain
; 144(10): e85, 2021 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34373908
4.
WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
J Med Genet
; 52(11): 754-61, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26264232
5.
Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites.
Sci Adv
; 9(7): eade4814, 2023 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36800428
6.
Allelic and dosage effects of NHS in X-linked cataract and Nance-Horan syndrome: a family study and literature review.
Mol Cytogenet
; 14(1): 48, 2021 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34620209