statistiche per GIORGIO, ELISA

Distribuzione geografica

Continente	#
NA - Nord America	2558
EU - Europa	1633
AS - Asia	782
OC - Oceania	70
SA - Sud America	60
AF - Africa	56
Continente sconosciuto - Info sul continente non disponibili	1
Totale	5160

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Nazione	#
US - Stati Uniti d'America	2454
IT - Italia	685
CN - Cina	412
DE - Germania	184
GB - Regno Unito	119
CA - Canada	95
FR - Francia	84
JP - Giappone	82
ES - Italia	73
RU - Federazione Russa	72
CZ - Repubblica Ceca	69
VN - Vietnam	60
AU - Australia	53
IN - India	50
KR - Corea	48
PL - Polonia	46
NL - Olanda	45
IE - Irlanda	33
ZA - Sudafrica	33
BR - Brasile	31
AT - Austria	30
CH - Svizzera	24
RO - Romania	24
BE - Belgio	20
FI - Finlandia	18
IL - Israele	18
NZ - Nuova Zelanda	17
TW - Taiwan	16
TR - Turchia	15
BA - Bosnia-Erzegovina	14
DK - Danimarca	14
GR - Grecia	14
HK - Hong Kong	14
ID - Indonesia	14
SE - Svezia	13
AR - Argentina	12
CL - Cile	12
LB - Libano	12
KE - Kenya	11
PT - Portogallo	11
LT - Lituania	8
NO - Norvegia	8
MX - Messico	7
CO - Colombia	5
NP - Nepal	5
UA - Ucraina	5
HU - Ungheria	4
IR - Iran	4
LY - Libia	4
SG - Singapore	4
TH - Thailandia	4
HR - Croazia	3
JO - Giordania	3
MY - Malesia	3
PK - Pakistan	3
SA - Arabia Saudita	3
SI - Slovenia	3
AL - Albania	2
BD - Bangladesh	2
BF - Burkina Faso	2
BG - Bulgaria	2
PH - Filippine	2
PS - Palestinian Territory	2
TN - Tunisia	2
AE - Emirati Arabi Uniti	1
BJ - Benin	1
BS - Bahamas	1
CY - Cipro	1
DZ - Algeria	1
EU - Europa	1
IQ - Iraq	1
KW - Kuwait	1
LK - Sri Lanka	1
LU - Lussemburgo	1
LV - Lettonia	1
ME - Montenegro	1
MK - Macedonia	1
NG - Nigeria	1
PR - Porto Rico	1
RS - Serbia	1
SC - Seychelles	1
SK - Slovacchia (Repubblica Slovacca)	1
UZ - Uzbekistan	1
Totale	5160

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Città	#
Fairfield	313
Houston	298
Torino	220
Woodbridge	213
Ann Arbor	151
Ashburn	151
Buffalo	148
Seattle	137
Beijing	102
Cambridge	100
Wilmington	98
Santa Cruz	94
Dong Ket	47
University Park	44
Shanghai	31
Wuhan	31
San Diego	30
Hangzhou	26
Warsaw	26
Muizenberg	25
Guangzhou	24
Vienna	23
Toronto	22
Pisa	21
Rome	21
Bologna	20
Shenyang	20
Mountain View	19
Chengdu	18
Kildare	18
Milan	18
Nanjing	18
Las Vegas	17
Ottawa	17
Seoul	17
Tokyo	16
Clearwater	15
Paris	15
Irvine	14
Phoenix	14
Beirut	12
Changsha	12
Pavia	12
Stuttgart	12
Boston	11
Lake Forest	11
Lyndhurst	11
Sarajevo	11
Antwerpen	10
Hartford	10
Los Angeles	10
Parsippany	10
Taipei	10
Buenos Aires	9
Montréal	9
New York	9
Norwalk	9
Siena	9
Austin	8
Brisbane	8
Madrid	8
Milpitas	8
Provo	8
Redmond	8
Riva	8
Scranton	8
Tianjin	8
Brescia	7
Chongqing	7
Duncan	7
Genova	7
Hyderabad	7
Nürnberg	7
Polska	7
Wisconsin Rapids	7
Barcelona	6
Brighton	6
Chicago	6
Dallas	6
Deland	6
Jinan	6
London	6
Pittsburgh	6
San Francisco	6
Summerville	6
São Paulo	6
Thessaloníki	6
Xian	6
Zhengzhou	6
Auckland	5
Bad Vilbel	5
Bethesda	5
Cardiff	5
Chatsworth	5
Gießen	5
Henderson	5
Istanbul	5
Jakarta	5
Modena	5
Munich	5
Totale	3106

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Nome	#
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity, file 206692	460
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations., file 140062	404
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism, file 571292	363
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications, file 139908	299
A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids, file 61873	267
Two families with novel missense mutations in COL4A1: When diagnosis can be missed., file 62318	263
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT), file 365174	220
Three novel missense mutations in SLC20A2 associated with idiopathic basal ganglia calcification, file 365299	188
Possible Influence of a Non-Synonymous Polymorphism Located in the NGF Precursor on Susceptibility to Late-Onset Alzheimer's Disease and Mild Cognitive Impairment., file 365310	180
Novel mutation of SLC20A2 in an Italian patient presenting with migraine., file 140088	173
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
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH., file 26525	139
Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy, file 511937	138
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2, file 110807	124
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells, file 391454	119
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East, file 648726	99
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes, file 316616	95
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations, file 508106	90
Recessive gene disruptions in autism spectrum disorder, file 571215	89
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q, file 302408	80
O056. Migraine as presenting symptom of SLC20A2gene mutations, file 365191	79
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
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review, file 760834	69
A high-content drug screening strategy to identify protein level modulators for genetic diseases: a proof-of-principle in Autosomal Dominant LeukoDystrophy (ADLD), file 769024	64
Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy, file 487075	62
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient, file 668209	58
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
Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question, file 778841	50
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression, file 22974	49
Messanger RNA processing is altered in autosomal dominant leukodystrophy., file 52011	48
High miR-100 expression is associated with aggressive features and modulates TORC1 complex activation in lung carcinoids, file 421843	45
A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease?, file 650441	45
SLC20A1 Is Involved in Urinary Tract and Urorectal Development, file 658055	44
A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy, file 670642	41
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity, file 504978	40
ELOVL5 Mutations Cause Spinocerebellar Ataxia 38, file 31080	34
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification, file 581510	31
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations, file 718539	31
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes, file 505344	28
Protein Stability Perturbation Contributes to the Loss of Function in Haploinsufficient Genes, file 742271	27
A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10, file 365186	24
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants, file 583386	20
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East, file 613986	17
Functional evaluation of Natural Killer cell cytotoxic activity in NFKB2-mutated patients, file 379497	13
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients, file 685574	11
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants, file 509050	9
Recessive gene disruptions in autism spectrum disorder, file 571216	8
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation, file 509058	7
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy, file 466760	6
Dental anomalies as a possible clue of 1p36 deletion syndrome due to germline mosaicism: A case report, file 618265	6
Functional evaluation of Natural Killer cell cytotoxic activity in NFKB2-mutated patients, file 564730	5
Recessive gene disruptions in autism spectrum disorder, file 571217	5
ELOVL5 Mutations Cause Spinocerebellar Ataxia 38, file 25301	4
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification, file 532775	4
A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease?, file 619954	4
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT), file 365175	3
Possible Influence of a Non-Synonymous Polymorphism Located in the NGF Precursor on Susceptibility to Late-Onset Alzheimer's Disease and Mild Cognitive Impairment., file 365311	3
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity, file 459757	3
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations, file 508104	3
Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy, file 544035	3
A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease?, file 621937	3
Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5), file 685854	3
Mek inhibition in a newborn with raf1-associated noonan syndrome ameliorates hypertrophic cardiomyopathy but is insufficient to revert pulmonary vascular disease, file 936194	3
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
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes, file 469493	2
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations, file 508105	2
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants, file 509051	2
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification, file 543945	2
Recessive gene disruptions in autism spectrum disorder, file 571218	2
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients, file 685575	2
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review, file 760828	2
A high-content drug screening strategy to identify protein level modulators for genetic diseases: a proof-of-principle in Autosomal Dominant LeukoDystrophy (ADLD), file 762913	2
A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10, file 365185	1
Three novel missense mutations in SLC20A2 associated with idiopathic basal ganglia calcification, file 365300	1
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations., file 375760	1
Novel mutation of SLC20A2 in an Italian patient presenting with migraine., file 375772	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
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes, file 469484	1
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism, file 571290	1
Electroclinical features and outcome of ANKRD11-related KBG syndrome: a novel report and literature review, file 749502	1
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis, file 964679	1
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis, file 978512	1
Analysis of the DNA methylation pattern of the promoter region of calcitonin gene-related peptide 1 gene in patients with episodic migraine: An exploratory case-control study, file 994122	1
Totale	5398

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Categoria	#
all - tutte	5398
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	5398

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	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2016/2017	30	0	0	0	0	0	0	0	0	0	0	14	16
2017/2018	303	25	23	17	22	24	49	32	18	22	25	22	24
2018/2019	660	29	43	26	31	33	11	22	52	54	104	142	113
2019/2020	1111	116	66	65	146	80	93	83	105	116	94	75	72
2020/2021	1624	54	156	144	155	166	138	164	155	133	124	93	142
2021/2022	1567	154	99	127	238	196	106	135	99	133	120	160	0
Totale													5398

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statistiche per GIORGIO, ELISA