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1.
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme.
Haematologica
; 107(3): 750-754, 2022 03 01.
Article
in English
| MEDLINE | ID: mdl-34788986
2.
Phenotype reversion as "natural gene therapy" in Fanconi anemia by a gene conversion event.
Front Genet
; 14: 1240758, 2023.
Article
in English
| MEDLINE | ID: mdl-37790699
3.
A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation.
Front Genet
; 14: 1209138, 2023.
Article
in English
| MEDLINE | ID: mdl-37547463
4.
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis.
Mol Genet Genomic Med
; 10(6): e1926, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35348309
5.
Anti-inflammatory properties of a proprietary bromelain extract (Bromeyal™) after in vitro simulated gastrointestinal digestion.
Int J Immunopathol Pharmacol
; 35: 20587384211034686, 2021.
Article
in English
| MEDLINE | ID: mdl-34387509
6.
Frailty and Delirium in Older Adults: A Systematic Review and Meta-Analysis of the Literature.
J Am Geriatr Soc
; 66(10): 2022-2030, 2018 10.
Article
in English
| MEDLINE | ID: mdl-30238970
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