statistiche ricercatore

Continente	#
NA - Nord America	977
EU - Europa	723
AS - Asia	157
AF - Africa	1
Continente sconosciuto - Info sul continente non disponibili	1
Totale	1.859

Nome	#
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome	208
9q31.1q31.3 deletion in two patients with similar clinical features: A newly recognized microdeletion syndrome?	191
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2	186
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age	169
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders	163
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy	163
Uncovering recessive likely pathogenic variants, using microdeletion sindrome with unusual phenotypes	143
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA	140
null	123
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B	116
null	102
Defining the effect of the 16p11.2 duplication on cognition, behavior, and medical comorbidities	87
A potential contributory role for ciliary dysfunction in the 16p11.2 600 kb BP4-BP5 pathology	54
Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)	47
Totale	1.892

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2019/2020	251	0	0	0	0	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	90	7	17	40	18	8	0	0	0	0	0	0	0
Totale													1.892