Detalhe da pesquisa
1.
Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1.
Eur J Hum Genet
; 30(8): 960-966, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35590056
2.
Alternative pre-analytic sample handling techniques for glucose measurement in the absence of fluoride tubes in low resource settings.
PLoS One
; 17(2): e0264432, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35226681
3.
Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.
Am J Med Genet A
; 146A(12): 1530-42, 2008 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18478590
4.
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.
Nat Genet
; 45(8): 947-50, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23770608
5.
Tooth discoloration in patients with neonatal diabetes after transfer onto glibenclamide: a previously unreported side effect.
Diabetes Care
; 32(8): 1428-30, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19435956
6.
A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome.
EMBO Rep
; 6(5): 470-5, 2005 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15864298