statistiche ricercatore

Nome	#
SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome, file dfa8b9a3-0dbb-748b-e053-3a05fe0a3a96	132
Pathogenic variants in STXBP1 and in genes for GABAa receptor subunities cause atypical rett/rett-like phenotypes, file dfa8b9a0-3551-748b-e053-3a05fe0a3a96	100
Clinical and molecular diagnosis of beckwith-wiedemann syndrome with single-or multi-locus imprinting disturbance, file dfa8b9a7-69c9-748b-e053-3a05fe0a3a96	58
A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomalies, file dfa8b990-f346-748b-e053-3a05fe0a3a96	5
Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome, file dfa8b990-c22c-748b-e053-3a05fe0a3a96	2
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome, file dfa8b9a3-56dc-748b-e053-3a05fe0a3a96	1
Totale	298

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2019/2020	32	0	0	0	0	0	7	8	5	5	3	0	4
2020/2021	68	1	3	7	3	3	14	5	7	2	8	6	9
2021/2022	82	11	1	9	5	8	0	5	8	2	4	22	7
2022/2023	74	1	4	19	12	7	5	1	7	4	2	11	1
2023/2024	35	1	0	5	1	6	6	9	4	2	1	0	0
Totale													298

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