statistiche ricercatore

Nome	#
Spectrum of X-linked intellectual disabilities and psychiatric symptoms in a family harbouring a Xp22.12 microduplication encompassing the RPS6KA3 gene	79
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I	54
Biological Role and Clinical Implications of microRNAs in BRCA Mutation Carriers	51
A patient with mosaic USP9X gene variant	37
Mechanism of action and clinical efficacy of CDK4/6 inhibitors in BRCA-mutated, estrogen receptor-positive breast cancers: Case report and literature review	35
Prognostic significance of germline BRCA mutations in patients with HER2-POSITIVE breast cancer	29
Severe hypertrophic cardiomyopathy in a patient with a homozygous MYH7 gene variant	28
Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing	28
Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup	15
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa	13
Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond	12
Functional HRD by RAD51 identifies BRCA1 VUS associated with loss of gene function and response to DNA-damaging agents	8
Totale	389

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2019/2020	24	3	4	0	0	1	2	3	0	2	6	2	1
2020/2021	9	0	0	1	3	1	0	2	1	0	1	0	0
2021/2022	36	1	0	9	1	2	0	4	6	0	1	1	11
2022/2023	155	8	13	9	14	23	14	1	10	51	3	6	3
2023/2024	132	8	16	7	3	1	19	14	7	5	21	15	16
2024/2025	26	26	0	0	0	0	0	0	0	0	0	0	0
Totale													389