Detalhe da pesquisa
1.
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.
Nature
; 592(7852): 93-98, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33568816
2.
Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression.
Mol Vis
; 27: 107-116, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-33907366
3.
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.
Am J Hum Genet
; 99(3): 770-776, 2016 Sep 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27588451
4.
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
Hum Mol Genet
; 25(20): 4546-4555, 2016 10 15.
Artigo
Inglês
| MEDLINE | ID: mdl-28173158
5.
Clinical Impact of 5 Years of Liraglutide Treatment on Cardiovascular Risk Factors in Patients with Type 2 Diabetes Mellitus in a Real-Life Setting in Italy: An Observational Study.
Diabetes Ther
; 9(6): 2201-2208, 2018 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-30238228
6.
NANS-mediated synthesis of sialic acid is required for brain and skeletal development.
Nat Genet
; 48(7): 777-84, 2016 07.
Artigo
Inglês
| MEDLINE | ID: mdl-27213289
7.
Insulin causes endothelial dysfunction in humans: sites and mechanisms.
Circulation
; 105(5): 576-82, 2002 Feb 05.
Artigo
Inglês
| MEDLINE | ID: mdl-11827922
8.
Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation.
Mol Cytogenet
; 8: 50, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-26175800
9.
Correlation between baseline characteristics and clinical outcomes in a large population of diabetes patients treated with liraglutide in a real-world setting in Italy.
Clin Ther
; 37(3): 574-84, 2015 Mar 01.
Artigo
Inglês
| MEDLINE | ID: mdl-25626486
10.
Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development.
Nat Genet
; 49(6): 969, 2017 05 26.
Artigo
Inglês
| MEDLINE | ID: mdl-28546570