Detalhe da pesquisa
1.
Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome.
Clin Genet
; 102(1): 66-71, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35352826
2.
A whole genome SNP genotyping by DNA microarray and candidate gene association study for kidney stone disease.
BMC Med Genet
; 15: 50, 2014 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24886237
3.
An induced pluripotent stem cell line (MUSIi019-A) generated from a patient with distal renal tubular acidosis carrying a compound heterozygous mutation in solute carrier family 4 member 1 (SLC4A1) gene.
Stem Cell Res
; 67: 103043, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36791635
4.
A novel loss-of-function mutation of PBK associated with human kidney stone disease.
Sci Rep
; 10(1): 10282, 2020 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32581305
5.
Loss-of-function mutations of SCN10A encoding NaV1.8 α subunit of voltage-gated sodium channel in patients with human kidney stone disease.
Sci Rep
; 8(1): 10453, 2018 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29992996
6.
Association between human prothrombin variant (T165M) and kidney stone disease.
PLoS One
; 7(9): e45533, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23029076
7.
A new syndrome of symphalangism, multiple frenula, postaxial polydactyly, dysplastic ears, dental anomalies, and exclusion of NOG and GDF5.
Am J Med Genet A
; 120A(3): 381-5, 2003 Jul 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-12838559