statistiche per DI GREGORIO, ELEONORA

Distribuzione geografica

Continente	#
NA - Nord America	2181
EU - Europa	1353
AS - Asia	677
OC - Oceania	46
SA - Sud America	43
AF - Africa	33
Continente sconosciuto - Info sul continente non disponibili	1
Totale	4334

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Nazione	#
US - Stati Uniti d'America	2100
IT - Italia	485
CN - Cina	379
DE - Germania	281
GB - Regno Unito	108
RU - Federazione Russa	71
CA - Canada	70
FR - Francia	67
CZ - Repubblica Ceca	65
VN - Vietnam	61
KR - Corea	54
ES - Italia	52
JP - Giappone	50
PL - Polonia	38
IN - India	34
AU - Australia	33
ZA - Sudafrica	27
RO - Romania	22
AT - Austria	21
NL - Olanda	21
BR - Brasile	20
IE - Irlanda	20
BE - Belgio	19
TW - Taiwan	16
ID - Indonesia	14
NZ - Nuova Zelanda	13
LB - Libano	12
PT - Portogallo	12
CL - Cile	11
HK - Hong Kong	11
FI - Finlandia	9
MX - Messico	9
UA - Ucraina	9
AR - Argentina	8
IL - Israele	8
LT - Lituania	7
SE - Svezia	7
CH - Svizzera	6
TR - Turchia	6
GR - Grecia	5
NP - Nepal	5
CO - Colombia	4
IR - Iran	4
SG - Singapore	4
SI - Slovenia	4
TH - Thailandia	4
BA - Bosnia-Erzegovina	3
DK - Danimarca	3
HR - Croazia	3
JO - Giordania	3
NO - Norvegia	3
PK - Pakistan	3
RS - Serbia	3
AL - Albania	2
HU - Ungheria	2
PS - Palestinian Territory	2
SA - Arabia Saudita	2
TN - Tunisia	2
AE - Emirati Arabi Uniti	1
BD - Bangladesh	1
BG - Bulgaria	1
BS - Bahamas	1
CY - Cipro	1
DZ - Algeria	1
EG - Egitto	1
ET - Etiopia	1
EU - Europa	1
LU - Lussemburgo	1
LV - Lettonia	1
ME - Montenegro	1
NG - Nigeria	1
PH - Filippine	1
PR - Porto Rico	1
SK - Slovacchia (Repubblica Slovacca)	1
UZ - Uzbekistan	1
Totale	4334

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Città	#
Fairfield	293
Houston	260
Woodbridge	189
Beijing	172
Ashburn	146
Torino	145
Ann Arbor	135
Seattle	117
Buffalo	113
Cambridge	104
Wilmington	85
Santa Cruz	64
San Diego	59
University Park	48
Dong Ket	45
Wuhan	27
Warsaw	24
Hangzhou	21
Nürnberg	21
Muizenberg	19
Shenyang	19
Mountain View	18
Pisa	18
Toronto	17
Las Vegas	16
Rome	15
Shanghai	15
Vienna	15
Chengdu	14
Clearwater	14
Ottawa	14
Paris	14
Guangzhou	13
Beirut	12
Phoenix	12
Bologna	11
Nanjing	11
Seoul	11
Antwerpen	10
Leawood	10
Milan	10
Lake Forest	9
Napoli	9
Taipei	9
Tokyo	9
Buenos Aires	8
Hartford	8
London	8
Lyndhurst	8
Provo	8
San Francisco	8
Changsha	7
Dearborn	7
Los Angeles	7
Manchester	7
Milpitas	7
Austin	6
Boston	6
Brighton	6
Dallas	6
Parsippany	6
Polska	6
Summerville	6
São Paulo	6
Xian	6
Bricherasio	5
Brisbane	5
Gießen	5
Modena	5
Philadelphia	5
Pittsburgh	5
Radcliffe	5
Reggio Nell'emilia	5
Sankt Ingbert	5
Strasbourg	5
Vancouver	5
Vigo	5
Bad Vilbel	4
Bethesda	4
Brescia	4
Cardiff	4
Chicago	4
Clarks Summit	4
Columbus	4
El Barco De Ávila	4
Germantown	4
Hebei	4
Hyderabad	4
Lanzhou	4
Mexico	4
Minneapolis	4
Montréal	4
New York	4
Norwalk	4
Recklinghausen	4
Saint Louis	4
Scranton	4
Utrecht	4
Valencia	4
Verona	4
Totale	2701

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Nome	#
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity, file 206692	459
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations., file 140062	404
Spinocerebellar Ataxia Type 38., file 518538	386
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications, file 139908	299
Two families with novel missense mutations in COL4A1: When diagnosis can be missed., file 62318	263
Heterozygous deletion of KLHL1/ATX8OS at the SCA8 locus is unlikely associated with cerebellar impairment in humans, file 140140	235
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT), file 365174	219
A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation., file 26609	180
A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy, file 6583	162
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD), file 140099	155
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes, file 368276	144
Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38), file 155234	142
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome., file 12899	141
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH., file 26525	139
Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38, file 368278	133
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2, file 110807	124
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes, file 316616	95
De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype, file 20238	86
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q, file 302408	80
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy, file 504249	75
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation, file 552224	74
A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia, file 20923	71
Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study, file 528951	66
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples, file 206676	57
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients, file 685573	52
Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice, file 376920	49
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression, file 22974	48
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity, file 504978	40
New insights into potocki-shaffer syndrome: Report of two novel cases and literature review, file 676547	37
ELOVL5 Mutations Cause Spinocerebellar Ataxia 38, file 31080	34
De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype, file 20239	11
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients, file 685574	11
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation, file 509058	7
790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism, file 371011	6
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy, file 466760	6
ELOVL5 Mutations Cause Spinocerebellar Ataxia 38, file 25301	4
Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot, file 749504	4
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans, file 762918	4
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT), file 365175	3
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity, file 459757	3
New insights into potocki-shaffer syndrome: Report of two novel cases and literature review, file 676548	3
Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study, file 862098	3
Different electroclinical picture of generalized epilepsy in two families with 15q13.3 microdeletion., file 20593	2
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity, file 206693	2
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes, file 316611	2
Cover Image, Volume 170A, Number 7, July 2016, file 365193	2
Two families with novel missense mutations in COL4A1: When diagnosis can be missed., file 375765	2
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity, file 459756	2
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy, file 466761	2
Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study, file 528952	2
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients, file 685575	2
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations., file 375760	1
The (-16C>T) substitution in the PLEKHG4 gene is not present among European ADCA patients, file 375928	1
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis, file 416130	1
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans, file 762919	1
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans, file 769350	1
Totale	4537

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Categoria	#
all - tutte	4537
article - articoli	0
book - libri	0
conference - conferenze	0
curatela - curatele	0
other - altro	0
patent - brevetti	0
selected - selezionate	0
volume - volumi	0
Totale	4537

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	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2016/2017	42	0	0	0	0	0	0	0	0	0	0	22	20
2017/2018	401	32	26	28	19	30	57	59	31	30	25	41	23
2018/2019	657	32	46	26	33	42	22	24	53	52	86	139	102
2019/2020	978	91	67	56	122	76	86	69	83	107	85	75	61
2020/2021	1137	67	103	79	75	69	76	56	83	111	169	127	122
2021/2022	1118	106	68	108	182	190	73	68	69	85	68	101	0
Totale													4537

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statistiche per DI GREGORIO, ELEONORA