statistiche ricercatore

Nome	#
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome	114
An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene	101
Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues	85
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213	71
Expanding the phenotype associated with biallelic SLC20A2 variants	70
Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects	67
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review	67
Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia	58
Expanding the phenotype of UPF3B-related disorder: Case reports and literature review	54
Arteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center	49
Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT)	45
Novel De Novo RALA Missense Variants Expand the Genotype Spectrum of Hiatt‐Neu‐Cooper Neurodevelopmental Syndrome	30
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes	12
Totale	823

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2021/2022	6	0	0	0	0	0	0	0	0	0	0	0	6
2022/2023	45	0	3	0	5	6	5	1	6	7	0	10	2
2023/2024	59	3	5	2	9	5	12	3	0	3	4	6	7
2024/2025	241	8	9	4	15	22	29	23	51	16	7	32	25
2025/2026	472	57	14	43	56	84	30	71	38	50	29	0	0
Totale													823