statistiche ricercatore

Nome	#
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes	76
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples	71
Dominant {ARF}3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish	59
null	59
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants	44
Health-related quality of life assessment in eating disorders: adjustment and validation of a specific scale with the inclusion of an interpersonal domain	31
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome	30
SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction	17
Obesità, dieta mediterranea e nutraceutica	13
Whole Genome Sequencing Solves an Atypical Form of Bardet–Biedl Syndrome: Identification of Novel Pathogenic Variants of BBS9	11
Biallelic variants of MRPS36 cause a new form of Leigh syndrome	11
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis	11
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline	9
Totale	442

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2019/2020	39	0	0	0	0	0	11	8	7	7	2	2	2
2020/2021	17	2	7	0	1	0	0	4	0	2	1	0	0
2021/2022	39	0	0	7	1	5	1	0	5	1	4	5	10
2022/2023	66	8	11	3	3	5	9	3	6	5	5	5	3
2023/2024	84	6	7	1	13	13	13	6	2	4	9	3	7
2024/2025	110	8	9	17	15	23	38	0	0	0	0	0	0
Totale													442

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