statistiche ricercatore

Continente	#
NA - Nord America	972
EU - Europa	667
AS - Asia	132
AF - Africa	1
Continente sconosciuto - Info sul continente non disponibili	1
Totale	1.773

Nome	#
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome	200
9q31.1q31.3 deletion in two patients with similar clinical features: A newly recognized microdeletion syndrome?	182
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2	180
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age	161
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders	157
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy	155
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA	135
Uncovering recessive likely pathogenic variants, using microdeletion sindrome with unusual phenotypes	135
null	123
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B	113
null	102
Defining the effect of the 16p11.2 duplication on cognition, behavior, and medical comorbidities	77
A potential contributory role for ciliary dysfunction in the 16p11.2 600 kb BP4-BP5 pathology	48
Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)	38
Totale	1.806

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2019/2020	402	52	17	26	56	26	40	44	46	29	40	10	16
2020/2021	264	11	27	23	27	9	30	14	37	20	32	18	16
2021/2022	166	11	26	12	13	4	4	9	8	3	21	15	40
2022/2023	265	17	40	32	33	28	46	4	17	31	2	7	8
2023/2024	262	8	3	38	22	13	70	80	4	4	2	4	14
2024/2025	4	4	0	0	0	0	0	0	0	0	0	0	0
Totale													1.806