Detalhe da pesquisa
1.
Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease.
JAMA
; 328(24): 2412-2421, 2022 12 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36573973
2.
Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.
Genet Med
; 23(12): 2386-2393, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34326492
3.
ALG9 Mutation Carriers Develop Kidney and Liver Cysts.
J Am Soc Nephrol
; 30(11): 2091-2102, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31395617
4.
Cilia have high cAMP levels that are inhibited by Sonic Hedgehog-regulated calcium dynamics.
Proc Natl Acad Sci U S A
; 113(46): 13069-13074, 2016 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27799542
5.
A conserved mechanism for gating in an ionotropic glutamate receptor.
J Biol Chem
; 288(26): 18842-52, 2013 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-23671286
6.
The Phenotypic Spectrum of COL4A3 Heterozygotes.
medRxiv
; 2023 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37163122
7.
The Phenotypic Spectrum of COL4A3 Heterozygotes.
Kidney Int Rep
; 8(10): 2088-2099, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37849993
8.
Isolation, characterization, and DNA binding kinetics of three dirhodium(II,II) carboxyamidate complexes: Rh2(µ-L)(HNOCCF3)3 where L= [OOCCH3]-, [OOCCF3]-, or [HNOCCF3]-.
Inorg Chem
; 50(8): 3458-63, 2011 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-21428434
9.
Electronic health record analysis identifies kidney disease as the leading risk factor for hospitalization in confirmed COVID-19 patients.
PLoS One
; 15(11): e0242182, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33180868
10.
Genetic variants help define the role of the MC4R C-terminus in signaling and cell surface stability.
Sci Rep
; 8(1): 10397, 2018 Jul 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29991773
11.
Long-term weight-loss in gastric bypass patients carrying melanocortin 4 receptor variants.
PLoS One
; 9(4): e93629, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24705671