Detalhe da pesquisa
1.
De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
Hum Mol Genet
; 31(3): 440-454, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34505148
2.
Genotype-phenotype correlation at codon 1740 of SETD2.
Am J Med Genet A
; 182(9): 2037-2048, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32710489
3.
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.
Circulation
; 136(11): 1037-1048, 2017 Sep 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28687708
4.
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Am J Med Genet A
; 176(4): 925-935, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29436146
5.
Molecular characterization of the calcium release channel deficiency syndrome.
JCI Insight
; 5(15)2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32663189
6.
Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community.
JAMA Cardiol
; 5(3): 13-18, 2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31913406
7.
Dental issues in lacrimo-auriculo-dento-digital syndrome: An autosomal dominant condition with clinical and genetic variability.
J Am Dent Assoc
; 148(3): 157-163, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28043400