statistiche ricercatore

Continente	#
NA - Nord America	1017
EU - Europa	336
AS - Asia	64
SA - Sud America	3
Continente sconosciuto - Info sul continente non disponibili	1
Totale	1421

Nome	#
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders	248
Severe inflammatory bowel disease associated with congenital alteration of transforming growth factor beta signaling.	163
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference	147
Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12	129
A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation	108
De novo 6.9Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features	100
Alagille syndrome: A new missense mutation detected by whole-exome sequencing in a case previously found to be negative by DHPLC and MLPA	99
Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I	95
A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature	94
Molecular Diagnosis of Usher Syndrome: Application of Two Different Next Generation Sequencing-Based Procedures	91
Molecular epidemiology of Usher syndrome in Italy	84
Genetics of hearing loss (from congenital forms to presbycusis)	55
A new MAPT deletion in a case of speech apraxia leading to corticobasal syndrome	39
Type 3 Congenital Multiple Pituitary Hormone Deficiency	38
Totale	1490

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2017/2018	4	0	0	0	0	0	0	0	0	1	0	3	0
2018/2019	119	0	1	5	4	0	0	0	15	0	14	51	29
2019/2020	456	22	24	36	73	39	56	53	39	39	26	26	23
2020/2021	231	15	19	16	31	19	15	13	29	11	29	8	26
2021/2022	252	6	17	3	27	28	28	14	8	25	21	17	58
2022/2023	348	30	60	15	67	30	76	7	34	29	0	0	0
Totale													1490

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