statistiche ricercatore

Nome	#
Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients	42
Molecular characterization of choroideremia-associated deletions reveals an unexpected regulation of CHM gene transcription	33
Nuclear fgfr2 interacts with the mll-af4 oncogenic chimera and positively regulates hoxa9 gene expression in t(4;11) leukemia cells	33
MiR‐27a downregulates 14‐3‐3θ, RUNX1, AF4, and MLL‐AF4, crucial drivers of blast transformation in t(4;11) leukemia cells	32
A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient	20
De Novo Large Deletions in the PHEX Gene Caused X-Linked Hypophosphataemic Rickets in Two Italian Female Infants Successfully Treated with Burosumab	19
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis	15
SET-PP2A complex as a new therapeutic target in KMT2A (MLL) rearranged AML	14
RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily	12
Totale	220

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2020/2021	6	0	0	0	0	0	0	3	1	0	2	0	0
2021/2022	27	0	0	1	9	0	0	1	1	0	1	3	11
2022/2023	25	4	2	1	1	3	5	1	1	1	5	1	0
2023/2024	70	3	5	8	4	5	15	3	1	0	7	11	8
2024/2025	92	8	8	1	2	13	39	21	0	0	0	0	0
Totale													220