Detalhe da pesquisa
1.
Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.
Neurogenetics
; 23(2): 115-127, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35106698
2.
Assessment of treatment options for patients with hepatitis C virus recombinant form 2k/1b.
Hepatol Res
; 51(2): 156-165, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33207029
3.
Identification of hepatitis C virus 2k/1b intergenotypic recombinants in Georgia.
Liver Int
; 38(3): 451-457, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28782185
4.
Agammaglobulinemia with normal B-cell numbers in a patient lacking Bob1.
J Allergy Clin Immunol
; 147(5): 1977-1980, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33571536
5.
Emergence of Hepatitis C Virus Genotype Recombinant Forms 2k/1b in Georgia.
Clin Lab
; 62(7): 1347-1351, 2016 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28164650
6.
Diversity of kidney care referral pathways in national child health systems of 48 European countries.
Front Pediatr
; 12: 1327422, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38292210
7.
Additional evidence on the phenotype produced by combination of CFTR 1677delTA alleles and their relevance in causing CFTR-related disease.
SAGE Open Med Case Rep
; 11: 2050313X231177163, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37274939
8.
Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report.
J Neuromuscul Dis
; 9(1): 73-82, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34366366
9.
The histidine-loop is essential for transport activity of human MDR3. A novel mutation of MDR3 in a patient with progressive familial intrahepatic cholestasis type 3.
Gene
; 506(1): 141-5, 2012 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22766396