statistiche ricercatore

Nome	#
A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members	139
Characterization of intellectual disability and autism comorbidity through gene panel sequencing	123
Hereditary Hearing Loss: From Molecular Bases To Phenotypic Caractherization	89
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype	72
Effective Diagnosis of Neurodevelopmental Disorders (NDDs) by Computational Analysis and Next Generation Sequencing	44
High incidence of SHANK3 loss of function mutations in individuals with intellectual disability and autistic traits	43
TRIO variants in individuals with variable intellectual deficits	25
TARGETED GENE PANEL FOR COMORBID NEUROLOGICAL DISORDERS	25
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods	20
Totale	580

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2019/2020	56	0	0	0	3	6	3	11	7	8	4	3	11
2020/2021	105	2	5	1	8	9	8	0	7	6	36	21	2
2021/2022	105	2	26	2	5	19	7	4	4	2	7	6	21
2022/2023	109	16	16	0	13	10	15	1	10	9	5	10	4
2023/2024	96	8	9	15	10	5	6	2	9	2	17	4	9
2024/2025	60	2	23	18	17	0	0	0	0	0	0	0	0
Totale													580