Detalhe da pesquisa
1.
Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.
Hum Mutat
; 43(1): 67-73, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34747546
2.
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
Am J Hum Genet
; 101(4): 552-563, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28965847
3.
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2.
Brain
; 142(10): 2965-2978, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31412107
4.
Upper gut heat shock proteins HSP70 and GRP78 promote insulin resistance, hyperglycemia, and non-alcoholic steatohepatitis.
Nat Commun
; 13(1): 7715, 2022 12 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36513656
5.
Prevalence and predictors of non-alcoholic steatohepatitis in subjects with morbid obesity and with or without type 2 diabetes.
Diabetes Metab
; 48(5): 101363, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35760372