IRIS
SALPIETRO DAMIANO, VINCENZO
 Distribuzione geografica
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Continente #
NA - Nord America 1.239
AS - Asia 1.126
EU - Europa 495
SA - Sud America 250
AF - Africa 19
Continente sconosciuto - Info sul continente non disponibili 1
Totale 3.130
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Nazione #
US - Stati Uniti d'America 1.206
SG - Singapore 633
BR - Brasile 230
HK - Hong Kong 186
RU - Federazione Russa 176
CN - Cina 158
IT - Italia 85
DE - Germania 61
VN - Vietnam 60
IE - Irlanda 54
FI - Finlandia 31
GB - Regno Unito 25
CA - Canada 16
BD - Bangladesh 14
ZA - Sudafrica 11
IN - India 10
MX - Messico 10
PL - Polonia 10
AT - Austria 9
FR - Francia 9
JP - Giappone 9
NL - Olanda 9
SE - Svezia 9
IQ - Iraq 7
UZ - Uzbekistan 7
AR - Argentina 6
KR - Corea 5
TR - Turchia 5
EC - Ecuador 4
PH - Filippine 4
PK - Pakistan 4
AE - Emirati Arabi Uniti 3
ES - Italia 3
ID - Indonesia 3
LB - Libano 3
MA - Marocco 3
NI - Nicaragua 3
UY - Uruguay 3
CH - Svizzera 2
GE - Georgia 2
KG - Kirghizistan 2
LT - Lituania 2
PS - Palestinian Territory 2
PT - Portogallo 2
SA - Arabia Saudita 2
TN - Tunisia 2
VE - Venezuela 2
AL - Albania 1
BA - Bosnia-Erzegovina 1
BG - Bulgaria 1
BH - Bahrain 1
CI - Costa d'Avorio 1
CL - Cile 1
CO - Colombia 1
DZ - Algeria 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
LV - Lettonia 1
ME - Montenegro 1
MN - Mongolia 1
NP - Nepal 1
PA - Panama 1
PE - Perù 1
PY - Paraguay 1
RO - Romania 1
SR - Suriname 1
SY - Repubblica araba siriana 1
UA - Ucraina 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 3.130
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Città #
Singapore 308
Dallas 300
Hong Kong 186
Santa Clara 159
Boardman 132
Ashburn 113
New York 92
Los Angeles 88
The Dalles 69
Dublin 54
Moscow 43
Hefei 35
Munich 33
L’Aquila 30
São Paulo 28
Columbus 25
Assago 24
Beijing 17
Hanoi 16
Helsinki 16
Ho Chi Minh City 15
Brooklyn 12
Rio de Janeiro 12
Pescara 10
Shanghai 10
Denver 9
Frankfurt am Main 9
Montreal 9
Stockholm 9
Tokyo 9
Warsaw 9
Atlanta 8
Lappeenranta 8
London 8
San Francisco 8
Belo Horizonte 7
Düsseldorf 7
Johannesburg 6
Orem 6
Tashkent 6
Turku 6
Cape Town 5
Chicago 5
Da Nang 5
Falkenstein 5
Nuremberg 5
Seoul 5
Charlotte 4
Mexico City 4
Pelotas 4
Porto Alegre 4
Querétaro 4
Vienna 4
Wuhan 4
Ankara 3
Bari 3
Boston 3
Brasília 3
Chennai 3
Guangzhou 3
Jequié 3
Kirkuk 3
Lahore 3
Managua 3
Montevideo 3
Phoenix 3
Portsmouth 3
Raleigh 3
Rome 3
Santo André 3
Washington 3
Alegre 2
Amsterdam 2
Belford Roxo 2
Betim 2
Bismarck 2
Bắc Giang 2
Camaçari 2
Cariacica 2
Caxias do Sul 2
Chapecó 2
Council Bluffs 2
Dhaka 2
Franco da Rocha 2
Goiânia 2
Guarulhos 2
Haiphong 2
Houston 2
Jakarta 2
Las Vegas 2
Manchester 2
Manila 2
Mariana 2
Milwaukee 2
Minneapolis 2
Mumbai 2
Nablus 2
Naples 2
New Delhi 2
Newark 2
Totale 2.118
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Nome #
Epilepsy in Joubert Syndrome: A Still Few Explored Matter 82
Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation 78
Bardet{\textendash}Biedl Syndrome: A Brief Overview on Clinics and Genetics 77
Meckel Syndrome: A Clinical and Molecular Overview 73
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome 72
Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 69
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 68
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders 65
Alström{\textquotesingle}s Syndrome: Neurological Manifestations and Genetics 62
Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature 62
Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 62
ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrome: A case-based overview 61
Age-Related Neurodevelopmental Features in Children with Joubert Syndrome 61
Mitochondrial DNA involvement in patients with autism spectrum disorders and intellectual disability 59
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders 58
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities 58
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients 57
Brain and eye involvement in McCune-Albright Syndrome: clinical and translational insights 56
De novo KCNA6 variants with attenuated KV1.6 channel deactivation in patients with epilepsy 56
Genetic Background and Molecular Mechanisms of Juvenile Idiopathic Arthritis 55
Novel biallelic variants expand the phenotype of NAA20-related syndrome 54
Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities 53
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish 51
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 50
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 48
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 48
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders 47
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy 46
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 45
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder 44
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease 44
Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction 42
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 41
KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review 41
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies 40
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 40
Clinical and Neurophysiologic Phenotypes in Neonates with BRAT1 Encephalopathy 39
Correction to: Expanding the genetic heterogeneity of intellectual disability (Human Genetics, (2017), 136, 11-12, (1419-1429), 10.1007/s00439-017-1843-2) 38
Hydranencephaly in CENPJ-related Seckel syndrome 38
Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco 38
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia 37
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 37
Diagnostic Approach to Macrocephaly in Children 37
Clinical and electroencephalographic features of epilepsy in patients with triple X syndrome: A case series 36
Benign familial infantile epilepsy associated with KCNQ3 mutation: a rare occurrence or an underestimated event? 36
Probiotics and Helicobacter pylori infection in children 36
Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery 36
Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review 35
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome 35
A complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene cluster 35
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia 35
Prominent and regressive brain developmental disorders associated with nance-horan syndrome 33
Biallelic variants in kif17 associated with microphthalmia and coloboma spectrum 33
Atopy as a risk factor for thyroid autoimmunity in children 33
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases 32
Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function 31
De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype 31
Distinct gene-set burden patterns underlie common generalized and focal epilepsies 30
Pioneers and Emerging Pediatric Neurologists and Epileptologists in the World Foreword 30
Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report 30
Temporal-parietal-occipital epilepsy in GEFS+ associated with SCN1A mutation 29
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores 29
Mutations in TAF8 cause a neurodegenerative disorder 29
New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment 29
A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes 28
Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review 27
Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann−Steiner syndrome 26
Editorial: Genetically determined epilepsies: Perspectives in the era of precision medicine 25
Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review 25
Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abnormalities 25
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy 22
Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders 22
Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders 20
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development 13
Totale 3.205
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Categoria #
all - tutte 19.669
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 19.669
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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
2025/20261.288 118 315 262 241 229 123 0 0 0 0 0 0
Totale 3.205