statistiche ricercatore

statistiche per Gurrieri, Fiorella

Distribuzione geografica
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Continente #
EU - Europa 1173
NA - Nord America 807
AS - Asia 400
SA - Sud America 4
Continente sconosciuto - Info sul continente non disponibili 3
OC - Oceania 2
Totale 2389
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Nazione #
US - Stati Uniti d'America 800
DE - Germania 400
CN - Cina 300
IT - Italia 218
UA - Ucraina 216
SE - Svezia 124
FR - Francia 93
TR - Turchia 41
FI - Finlandia 39
IN - India 29
PL - Polonia 29
GB - Regno Unito 23
JP - Giappone 13
NL - Olanda 10
IR - Iran 9
CA - Canada 4
RU - Federazione Russa 4
BZ - Belize 3
EU - Europa 3
GR - Grecia 3
MT - Malta 3
NO - Norvegia 3
AU - Australia 2
BR - Brasile 2
CL - Cile 2
DK - Danimarca 2
SA - Arabia Saudita 2
BE - Belgio 1
CH - Svizzera 1
CZ - Repubblica Ceca 1
ES - Italia 1
HK - Hong Kong 1
IL - Israele 1
KW - Kuwait 1
MD - Moldavia 1
PK - Pakistan 1
PS - Palestinian Territory 1
RO - Romania 1
VN - Vietnam 1
Totale 2389
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Città #
San Mateo 93
Ann Arbor 92
Nanjing 90
Jacksonville 87
Wilmington 47
Boston 46
Beijing 43
Cattolica 43
Woodbridge 39
Izmir 38
Nanchang 35
Ashburn 31
Dearborn 29
Munich 23
Redmond 23
Kraków 20
Redwood City 18
Seattle 18
Nürnberg 17
Hebei 15
Houston 15
Tianjin 15
Jiaxing 14
Fairfield 13
Shenyang 12
Changsha 10
Kunming 10
Milan 10
Norwalk 10
Shanghai 10
University Park 10
Augusta 9
Mountain View 9
Rome 8
Guangzhou 7
Jinan 7
Zhengzhou 7
Hangzhou 6
Kish 6
Lancaster 6
Warsaw 6
Changchun 5
Indiana 5
New York 5
Andover 4
Lanzhou 4
Leawood 4
Marion 4
Athens 3
Belize City 3
Cambridge 3
Capri 3
Fremont 3
Guidonia 3
L'aquila 3
Las Vegas 3
Menlo Park 3
Tokyo 3
Villafranca Tirrena 3
Villeparisis 3
Bagneux 2
Biella 2
Castellammare Di Stabia 2
Como 2
Cornaredo 2
Marcianise 2
Melbourne 2
Monmouth Junction 2
Pistoia 2
Pittsburgh 2
Polska 2
Ronchi Dei Legionari 2
San Diego 2
San Jose 2
Santu Lussurgiu 2
Simi Valley 2
Toronto 2
Ålborg 2
Ürümqi 2
Acquaviva Delle Fonti 1
Alexandria 1
Amsterdam 1
Ankara 1
Appignano 1
Ardabil 1
Bari 1
Birmingham 1
Bloomington 1
Bologna 1
Brussels 1
Buffalo 1
Cagliari 1
Caserta 1
Castelfranco Emilia 1
Castelnuovo Rangone 1
Catania 1
Central District 1
Chicago 1
Chongqing 1
Dallas 1
Totale 1173
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Nome #
Malattie da difetti dell'imprinting genomico 158
Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. 153
Difetti genetici dello sviluppo embrionale 129
A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy. 97
Hypo-phosphorylation of salivary peptidome a clue to the molecular pathogenesis of autism spectrum disorders 84
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 74
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. 69
The Simpson-Golabi-Behmel syndrome: a clinical case and a detective story 68
Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype 65
An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus 63
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome 58
Encomium: Giovanni Neri--polyhedral and down-to-earth mentor 52
Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects. 50
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case 47
The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy 47
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients 47
Coding exons function as tissue-specific enhancers of nearby genes. 46
No Correlation between X Chromosome Inactivation Pattern and Autistic Spectrum Disorders in an Italian Cohort of Patients 46
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers 46
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 45
A split hand-split foot (SHFM3) gene is located at 10q24-->25 44
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome. 43
Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update 43
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. 43
NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series. 42
Defective oxytocin function: a clue to understanding the cause of autism 41
Elements of Morphology: standard terminology for the hands and feet 40
Encomium: Giovanni Neri--polyhedral and down-to-earth mentor. 40
Oral-facial-digital syndromes:review and diagnostic guidelines 38
Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder 37
Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13 37
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 36
Distinct neurological disorders with ATP1A3 mutations. 35
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation 35
Genetic imprinting:the paradigm of Prader Willi and Angelman syndromes 34
Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects. 34
Working up autism: the practical role of medical genetics. 33
Functional characterization of tissue-specific enhancers in the DLX5/6 locus 32
Oral-facial-digital syndromes: review and diagnostic guidelines 31
ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities. 29
PCR and sierology find no association between xenotropic murine leukemia virus-related virus (XMRV) and autism 28
Defective activation of the MAPK/ERK pathway, leading to PARP1 and DNMT1 dysregulation, is a common defect in IgA nephropathy and Henoch-Schönlein purpura 28
Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients 26
Defective loxytocin function: a clue to understanding the cause of autism? 25
Recognizable facial features in patients with alternating hemiplegia of childhood. 25
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study 21
ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases. 17
Identification of new candidate genes for spina bifida through exome sequencing 14
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome 13
A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy 13
Defective activation of the MAPK/ERK pathway, leading to PARP1 and DNMT1 dysregulation, is a common defect in IgA nephropathy and Henoch-Schonlein purpura 11
Results of a gene panel approach in a cohort of patients with incomplete distal renal tubular acidosis and nephrolithiasis 11
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients 9
Advances in the genetics of progressive myoclonus epilepsy 4
Totale 2436
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Categoria #
all - tutte 2436
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 2436
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2017/2018216 1311857 1816 1723 16121015
2018/2019354 1271020 7718 6111 11176248
2019/2020473 12519158 1953 3320 33296653
2020/2021404 12441246 5527 543 54137410
2021/2022537 45471125 4220 1092 271897103
2022/20239 9000 00 00 0000
Totale 2436
 
 
 
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