IRIS
SALPIETRO DAMIANO, VINCENZO
 Distribuzione geografica
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Continente #
NA - Nord America 1.802
AS - Asia 1.346
EU - Europa 812
SA - Sud America 264
AF - Africa 27
Continente sconosciuto - Info sul continente non disponibili 1
OC - Oceania 1
Totale 4.253
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Nazione #
US - Stati Uniti d'America 1.766
SG - Singapore 681
RU - Federazione Russa 376
BR - Brasile 237
HK - Hong Kong 202
CN - Cina 199
VN - Vietnam 143
IT - Italia 105
DE - Germania 70
FR - Francia 65
IE - Irlanda 54
FI - Finlandia 49
GB - Regno Unito 29
IN - India 19
BD - Bangladesh 16
CA - Canada 16
NL - Olanda 15
ZA - Sudafrica 14
JP - Giappone 13
IQ - Iraq 11
MX - Messico 11
PL - Polonia 10
SE - Svezia 10
AT - Austria 9
UZ - Uzbekistan 8
AR - Argentina 7
AE - Emirati Arabi Uniti 6
KR - Corea 5
PH - Filippine 5
PK - Pakistan 5
TR - Turchia 5
VE - Venezuela 5
EC - Ecuador 4
ID - Indonesia 4
MA - Marocco 4
SA - Arabia Saudita 4
ES - Italia 3
LB - Libano 3
NI - Nicaragua 3
UY - Uruguay 3
AL - Albania 2
CH - Svizzera 2
CL - Cile 2
CO - Colombia 2
DZ - Algeria 2
GE - Georgia 2
HN - Honduras 2
KG - Kirghizistan 2
LT - Lituania 2
NP - Nepal 2
PS - Palestinian Territory 2
PT - Portogallo 2
PY - Paraguay 2
TN - Tunisia 2
UA - Ucraina 2
AU - Australia 1
BA - Bosnia-Erzegovina 1
BG - Bulgaria 1
BH - Bahrain 1
CG - Congo 1
CI - Costa d'Avorio 1
CZ - Repubblica Ceca 1
EG - Egitto 1
GD - Grenada 1
GT - Guatemala 1
HR - Croazia 1
IL - Israele 1
JM - Giamaica 1
JO - Giordania 1
KE - Kenya 1
KW - Kuwait 1
KZ - Kazakistan 1
LV - Lettonia 1
ME - Montenegro 1
MN - Mongolia 1
MY - Malesia 1
NG - Nigeria 1
PA - Panama 1
PE - Perù 1
QA - Qatar 1
RO - Romania 1
SR - Suriname 1
SY - Repubblica araba siriana 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 4.253
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Città #
San Jose 399
Singapore 336
Dallas 300
Hong Kong 200
Ashburn 181
Santa Clara 165
Boardman 132
The Dalles 108
New York 94
Los Angeles 88
Moscow 74
Dublin 54
Lauterbourg 53
Hanoi 38
Ho Chi Minh City 37
Hefei 35
Munich 33
L’Aquila 30
São Paulo 28
Beijing 26
Lappeenranta 26
Columbus 25
Assago 24
Helsinki 16
Council Bluffs 14
Frankfurt am Main 14
Orem 13
Rio de Janeiro 13
Brooklyn 12
Da Nang 12
Tokyo 12
Pescara 10
Shanghai 10
Chicago 9
Denver 9
Johannesburg 9
London 9
Montreal 9
Stockholm 9
Warsaw 9
Atlanta 8
Belo Horizonte 8
San Francisco 8
Düsseldorf 7
Nuremberg 7
Tashkent 7
Bari 6
Turku 6
Cape Town 5
Chennai 5
Falkenstein 5
Manchester 5
Mexico City 5
Mumbai 5
Porto Alegre 5
Seoul 5
Amsterdam 4
Biên Hòa 4
Charlotte 4
Haiphong 4
Milan 4
Ninh Bình 4
Pelotas 4
Querétaro 4
Riyadh 4
Vienna 4
Washington 4
Wuhan 4
Ankara 3
Baghdad 3
Boston 3
Brasília 3
Dubai 3
Guangzhou 3
Hải Dương 3
Jequié 3
Kirkuk 3
Lahore 3
Managua 3
Montevideo 3
Naples 3
New Delhi 3
Phoenix 3
Portsmouth 3
Raleigh 3
Rome 3
Santo André 3
Alegre 2
Asunción 2
Belford Roxo 2
Betim 2
Bismarck 2
Bologna 2
Buenos Aires 2
Bắc Giang 2
Bắc Ninh 2
Bến Tre 2
Camaçari 2
Cariacica 2
Casablanca 2
Totale 2.903
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Nome #
Epilepsy in Joubert Syndrome: A Still Few Explored Matter 103
Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation 102
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome 95
Bardet{\textendash}Biedl Syndrome: A Brief Overview on Clinics and Genetics 94
Meckel Syndrome: A Clinical and Molecular Overview 88
Correction to: Safety and Psychological Outcomes of Tandem t:Slim X2 Insulin Pump with Control-IQ Technology in Children, Adolescents, and Young Adults with Type 1 Diabetes: A Systematic Review 85
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders 81
Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 81
Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 81
Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities 80
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities 78
Alström{\textquotesingle}s Syndrome: Neurological Manifestations and Genetics 78
Brain and eye involvement in McCune-Albright Syndrome: clinical and translational insights 77
De novo KCNA6 variants with attenuated KV1.6 channel deactivation in patients with epilepsy 77
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients 76
ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrome: A case-based overview 76
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders 74
Mitochondrial DNA involvement in patients with autism spectrum disorders and intellectual disability 74
Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature 73
Age-Related Neurodevelopmental Features in Children with Joubert Syndrome 73
Safety and Psychological Outcomes of Tandem t:Slim X2 Insulin Pump with Control-IQ Technology in Children, Adolescents, and Young Adults with Type 1 Diabetes: A Systematic Review 72
Genetic Background and Molecular Mechanisms of Juvenile Idiopathic Arthritis 70
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish 69
Novel biallelic variants expand the phenotype of NAA20-related syndrome 69
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 67
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders 65
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 63
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy 62
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 61
KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review 60
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia 59
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder 59
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies 58
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease 58
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 57
Clinical and Neurophysiologic Phenotypes in Neonates with BRAT1 Encephalopathy 56
Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction 54
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 53
Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco 53
Benign familial infantile epilepsy associated with KCNQ3 mutation: a rare occurrence or an underestimated event? 52
Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report 51
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome 50
Correction to: Expanding the genetic heterogeneity of intellectual disability (Human Genetics, (2017), 136, 11-12, (1419-1429), 10.1007/s00439-017-1843-2) 50
A complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene cluster 50
Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery 50
Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function 49
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia 49
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores 48
Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review 48
Diagnostic Approach to Macrocephaly in Children 48
Clinical and electroencephalographic features of epilepsy in patients with triple X syndrome: A case series 47
Distinct gene-set burden patterns underlie common generalized and focal epilepsies 47
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 47
Probiotics and Helicobacter pylori infection in children 47
Atopy as a risk factor for thyroid autoimmunity in children 47
Hydranencephaly in CENPJ-related Seckel syndrome 47
Prominent and regressive brain developmental disorders associated with nance-horan syndrome 45
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases 45
Biallelic variants in kif17 associated with microphthalmia and coloboma spectrum 44
Pioneers and Emerging Pediatric Neurologists and Epileptologists in the World Foreword 41
De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype 40
Temporal-parietal-occipital epilepsy in GEFS+ associated with SCN1A mutation 40
Mutations in TAF8 cause a neurodegenerative disorder 40
A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes 40
Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders 39
New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment 38
Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review 37
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy 36
Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review 36
Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann−Steiner syndrome 36
Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abnormalities 32
Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders 31
Editorial: Genetically determined epilepsies: Perspectives in the era of precision medicine 29
Selective Plasmatic Amino Acid Alterations as a Potential Biomarker for Pathological Stratification in Autism Spectrum Disorders 24
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development 18
Totale 4.329
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Categoria #
all - tutte 21.614
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 21.614
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2022/202346 0 0 0 0 1 0 4 0 37 0 4 0
2023/2024351 3 1 71 61 3 118 1 5 0 49 22 17
2024/20251.520 53 19 122 54 213 169 198 108 293 80 130 81
2025/20262.412 118 315 262 241 229 141 518 108 228 252 0 0
Totale 4.329