statistiche ricercatore

Nome	#
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome	92
An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene	74
Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues	57
Expanding the phenotype associated with biallelic SLC20A2 variants	49
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review	46
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213	45
Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects	39
Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia	39
Expanding the phenotype of UPF3B-related disorder: Case reports and literature review	34
Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT)	13
Arteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center	10
Novel De Novo RALA Missense Variants Expand the Genotype Spectrum of Hiatt‐Neu‐Cooper Neurodevelopmental Syndrome	6
Totale	504

	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	153	57	14	43	39	0	0	0	0	0	0	0	0
Totale													504