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1.
Pretransplant evaluation and the risk of glucose metabolic alterations after renal transplantation: a prospective study.
Nephrol Dial Transplant
; 38(3): 778-786, 2023 02 28.
Article
in English
| MEDLINE | ID: mdl-36083994
2.
CONCOMITANT MUTATIONS IN INHERITED RETINAL DYSTROPHIES: Why the Reproductive and Therapeutic Counseling Should Be Addressed Cautiously.
Retina
; 41(9): 1966-1975, 2021 Sep 01.
Article
in English
| MEDLINE | ID: mdl-33411470
3.
Usher Syndrome: Genetics of a Human Ciliopathy.
Int J Mol Sci
; 22(13)2021 Jun 23.
Article
in English
| MEDLINE | ID: mdl-34201633
4.
Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.
Mol Vis
; 26: 216-225, 2020.
Article
in English
| MEDLINE | ID: mdl-32214787
5.
The importance of biochemical and genetic findings in the diagnosis of atypical Norrie disease.
Clin Chem Lab Med
; 56(2): 229-235, 2018 01 26.
Article
in English
| MEDLINE | ID: mdl-28742514
6.
When an Analytical Interference Is a Useful Diagnostic Tool: Finding Monoclonal Gammopathies in Routine Analysis.
J Clin Lab Anal
; 30(2): 140-4, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-25545621
7.
Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes.
Sci Rep
; 12(1): 68, 2022 01 07.
Article
in English
| MEDLINE | ID: mdl-34996991
8.
Updating the Genetic Landscape of Inherited Retinal Dystrophies.
Front Cell Dev Biol
; 9: 645600, 2021.
Article
in English
| MEDLINE | ID: mdl-34327195
9.
Application of CRISPR Tools for Variant Interpretation and Disease Modeling in Inherited Retinal Dystrophies.
Genes (Basel)
; 11(5)2020 04 27.
Article
in English
| MEDLINE | ID: mdl-32349249
10.
Expanding the Clinical and Molecular Heterogeneity of Nonsyndromic Inherited Retinal Dystrophies.
J Mol Diagn
; 22(4): 532-543, 2020 04.
Article
in English
| MEDLINE | ID: mdl-32036094
11.
Levels of regulatory T cells CD69(+)NKG2D(+)IL-10(+) are increased in patients with autoimmune thyroid disorders.
Endocrine
; 51(3): 478-89, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-26100786
12.
Circulating Microvesicles Regulate Treg and Th17 Differentiation in Human Autoimmune Thyroid Disorders.
J Clin Endocrinol Metab
; 100(12): E1531-9, 2015 Dec.
Article
in English
| MEDLINE | ID: mdl-26480286
13.
Graves' disease is associated with a defective expression of the immune regulatory molecule galectin-9 in antigen-presenting dendritic cells.
PLoS One
; 10(4): e0123938, 2015.
Article
in English
| MEDLINE | ID: mdl-25880730
14.
Plasmacytoid dendritic cells in patients with autoimmune thyroid disease.
J Clin Endocrinol Metab
; 98(7): 2822-33, 2013 Jul.
Article
in English
| MEDLINE | ID: mdl-23666960
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