Detalhe da pesquisa
1.
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.
Am J Hum Genet
; 99(1): 174-87, 2016 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27392076
2.
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.
Am J Hum Genet
; 97(5): 761-8, 2015 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26522469
3.
Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype.
Am J Med Genet A
; 161A(5): 1028-35, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23554019
4.
Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections.
J Clin Invest
; 127(9): 3543-3556, 2017 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28783042
5.
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.
Nat Genet
; 44(8): 922-7, 2012 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-22772368