statistiche ricercatore

Nome	#
Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype, file dfa8b98f-b895-748b-e053-3a05fe0a3a96	248
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
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients, file dfa8b98f-be25-748b-e053-3a05fe0a3a96	53
A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele, file 6f82334d-a3a7-4b45-ab37-bf638f8f3e4a	16
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum, file dfa8b990-d5b2-748b-e053-3a05fe0a3a96	5
Sleep disorders in Cornelia de Lange syndrome, file dfa8b997-e28d-748b-e053-3a05fe0a3a96	4
Totale	558

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2018/2019	19	0	0	0	0	0	0	0	0	0	3	8	8
2019/2020	70	3	0	1	8	2	11	9	10	11	6	1	8
2020/2021	112	2	9	7	11	7	26	8	10	4	11	8	9
2021/2022	85	8	1	10	6	9	3	3	10	2	2	24	7
2022/2023	83	0	5	16	14	7	6	2	9	5	4	14	1
2023/2024	50	3	0	8	1	6	9	10	3	7	3	0	0
Totale													558

IRIS Institutional Research Information System - AIR Archivio Istituzionale della Ricerca