statistiche ricercatore

Nome	#
A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins	215
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management	192
Potential impact of fetal genotype on maternal blood pressure during pregnancy : the example of EP300	177
HOXA genes cluster: clinical implications of the smallest deletion	166
Sequence variants identification at the KCNQ1OT1: TSS differentially Methylated region in isolated omphalocele cases	151
7p22.1 microduplication syndrome : refinement of the critical region	130
Anemic nevus in neurofibromatosis type 1	114
Beckwith–Wiedemann and IMAGe syndromes : two very different diseases caused by mutations on the same gene	105
A multidisciplinary approach in neurofibromatosis 1	97
Aortic dilation in Sotos syndrome : an underestimated feature?	83
Syndromic obesity : clinical implications of a correct diagnosis	79
Preliminary evaluation of cord blood platelet gel for the treatment of skin lesions in children with dystrophic epidermolysis bullosa	66
Cord blood platelet gel treatment of dystrophic recessive epidermolysis bullosa	61
A novel non-sense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9	58
Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? : A case report and review of 62 cases	55
CATSHL syndrome, a new family and phenotypic expansion	1
Totale	1.750

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2018/2019	57	0	0	0	0	0	0	0	0	0	13	17	27
2019/2020	334	34	10	9	36	26	34	40	24	47	53	8	13
2020/2021	257	27	15	19	12	32	26	22	34	16	17	18	19
2021/2022	213	27	6	13	10	17	11	6	8	31	21	9	54
2022/2023	315	32	43	28	33	36	67	6	19	33	1	9	8
2023/2024	129	3	11	21	9	50	12	6	14	2	1	0	0
Totale													1.750

IRIS Institutional Research Information System - AIR Archivio Istituzionale della Ricerca