Detalhe da pesquisa
1.
A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.
J Am Soc Nephrol
; 33(4): 732-745, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35149593
2.
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
J Am Soc Nephrol
; 29(7): 1849-1858, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29654216
3.
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
J Am Soc Nephrol
; 28(8): 2529-2539, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28373276
4.
KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16.
Nephron Physiol
; 123(3-4): 7-14, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24193250
5.
A Perceptual Approach to the Impact of CSR on Organizational Financial Performance.
Behav Sci (Basel)
; 13(5)2023 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37232596
6.
The Role of Social Responsibility and Ethics in Employees' Wellbeing.
Int J Environ Res Public Health
; 19(14)2022 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35886689
7.
A novel claudin-16 mutation, severe bone disease, and nephrocalcinosis.
Lancet
; 383(9911): 98, 2014 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-24388313
8.
Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families.
Eur J Med Genet
; 62(11): 103561, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30394349
9.
Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes.
Oral Surg Oral Med Oral Pathol Oral Radiol
; 123(2): 229-234.e2, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28086997
10.
Hunter syndrome follow-up after 1 year of enzyme-replacement therapy.
BMJ Case Rep
; 20132013 Jan 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-23307460