statistiche ricercatore

Nome	#
Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism-array analysis	133
Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study	127
F402L variant in NLRP12 in subjects with undiagnosed periodic fevers and in healthy controls	83
Association between timing of dialysis initiation and clinical outcomes in the paediatric population: an ESPN/ERA-EDTA registry study	82
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme	8
Could the MED13 mutations manifest as a Kabuki-like syndrome?	6
Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene	6
Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: Clinical and functional characterization of two novel ABCC8 mutations	5
Identification of a new mutation (L46P) in the human NOG gene in an Italian patient with Symphalangism syndrome	3
Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL	1
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge	1
Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection	1
A novel mutation in the vWFA2 domain of the COCH gene in an Italian DFNA9 family	1
Congenital hyperinsulinism: Clinical and molecular analysis of a large Italian cohort	1
Totale	458

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2020/2021	26	0	0	0	0	0	1	5	5	3	2	2	8
2021/2022	36	2	2	0	2	1	2	1	1	0	7	13	5
2022/2023	39	5	6	1	4	3	6	0	1	9	1	0	3
2023/2024	16	4	0	0	1	1	4	0	0	5	0	0	1
2024/2025	77	2	4	3	3	5	3	6	3	17	5	12	14
2025/2026	130	19	14	9	8	72	8	0	0	0	0	0	0
Totale													458