statistiche ricercatore

Nome	#
Sindrome di Gorlin: possibilità di una diagnosi precoce in bambini con macrocrania ?	50
New insights in the interpretation of array-CGH: Autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants	31
Progress toward improved therapies for inborn errors of metabolism	29
Current Status on Clinical Development of Adeno-Associated Virus-Mediated Liver-Directed Gene Therapy for Inborn Errors of Metabolism	23
Disease burden and management of Crigler-Najjar syndrome: Report of a world registry	16
Liver-Directed Adeno-Associated Virus–Mediated Gene Therapy for Mucopolysaccharidosis Type VI	16
Prevalence and Relevance of Pre-Existing Anti-Adeno-Associated Virus Immunity in the Context of Gene Therapy for Crigler-Najjar Syndrome	14
Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype	7
Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?	7
Totale	193

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2019/2020	18	5	0	0	0	0	0	6	0	0	0	4	3
2020/2021	3	0	0	1	0	0	1	0	0	0	0	1	0
2021/2022	23	0	0	0	0	0	0	0	3	3	1	6	10
2022/2023	67	5	0	0	5	10	8	6	11	15	4	3	0
2023/2024	47	3	15	1	6	1	8	0	12	0	0	1	0
Totale													193