statistiche ricercatore

Nome	#
Mild clinical presentation of joubert syndrome in a male adult carrying biallelic mks1 truncating variants	39
Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients	39
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy	38
Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy	27
Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness	25
Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function	23
Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature	17
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia	11
A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype	9
Totale	228

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2021/2022	21	0	0	2	1	6	0	0	3	1	2	0	6
2022/2023	74	5	0	1	0	4	10	3	2	45	1	2	1
2023/2024	62	6	5	5	2	17	3	8	1	2	0	6	7
2024/2025	71	1	4	1	6	35	24	0	0	0	0	0	0
Totale													228