IRIS
SALPIETRO DAMIANO, VINCENZO
 Distribuzione geografica
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Continente #
NA - Nord America 1.972
AS - Asia 1.447
EU - Europa 825
SA - Sud America 266
AF - Africa 27
Continente sconosciuto - Info sul continente non disponibili 1
OC - Oceania 1
Totale 4.539
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Nazione #
US - Stati Uniti d'America 1.932
SG - Singapore 717
RU - Federazione Russa 376
BR - Brasile 237
CN - Cina 233
HK - Hong Kong 205
VN - Vietnam 145
IT - Italia 115
DE - Germania 70
FR - Francia 66
IE - Irlanda 54
FI - Finlandia 49
BD - Bangladesh 33
GB - Regno Unito 30
IN - India 20
CA - Canada 17
NL - Olanda 15
JP - Giappone 14
ZA - Sudafrica 14
MX - Messico 12
IQ - Iraq 11
PL - Polonia 10
SE - Svezia 10
AT - Austria 9
AR - Argentina 8
UZ - Uzbekistan 8
AE - Emirati Arabi Uniti 6
KR - Corea 6
MY - Malesia 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
CL - Cile 3
ES - Italia 3
HN - Honduras 3
LB - Libano 3
NI - Nicaragua 3
NP - Nepal 3
UY - Uruguay 3
AL - Albania 2
CH - Svizzera 2
CO - Colombia 2
CZ - Repubblica Ceca 2
DZ - Algeria 2
GE - Georgia 2
JM - Giamaica 2
KG - Kirghizistan 2
LT - Lituania 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
EG - Egitto 1
GD - Grenada 1
GT - Guatemala 1
HR - Croazia 1
IL - Israele 1
JO - Giordania 1
KE - Kenya 1
KH - Cambogia 1
KW - Kuwait 1
KZ - Kazakistan 1
LV - Lettonia 1
ME - Montenegro 1
MN - Mongolia 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 4.539
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Città #
San Jose 416
Singapore 336
Dallas 301
Hong Kong 203
Ashburn 186
Santa Clara 173
Boardman 132
Council Bluffs 116
The Dalles 108
New York 95
Los Angeles 90
Moscow 74
Dublin 54
Lauterbourg 53
Hanoi 39
Ho Chi Minh City 38
Hefei 35
Munich 33
L’Aquila 30
São Paulo 28
Beijing 27
Lappeenranta 26
Columbus 25
Assago 24
Helsinki 16
Frankfurt am Main 14
Orem 14
San Francisco 14
Rio de Janeiro 13
Brooklyn 12
Da Nang 12
Tokyo 12
Shanghai 11
Montreal 10
Pescara 10
Atlanta 9
Chicago 9
Denver 9
Johannesburg 9
London 9
Stockholm 9
Warsaw 9
Belo Horizonte 8
Bari 7
Düsseldorf 7
Nuremberg 7
Tashkent 7
Mexico City 6
Turku 6
Cape Town 5
Chennai 5
Falkenstein 5
Manchester 5
Mumbai 5
Porto Alegre 5
Seoul 5
Amsterdam 4
Biên Hòa 4
Charlotte 4
Haiphong 4
Houston 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
Dhaka 3
Dubai 3
Guangzhou 3
Hải Dương 3
Jequié 3
Kirkuk 3
Kuala Lumpur 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
Buffalo 2
Bắc Giang 2
Bắc Ninh 2
Totale 3.061
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Nome #
Epilepsy in Joubert Syndrome: A Still Few Explored Matter 111
Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation 106
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome 101
Bardet{\textendash}Biedl Syndrome: A Brief Overview on Clinics and Genetics 99
Meckel Syndrome: A Clinical and Molecular Overview 91
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 88
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders 87
Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 87
De novo KCNA6 variants with attenuated KV1.6 channel deactivation in patients with epilepsy 84
Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 82
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients 81
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities 80
Brain and eye involvement in McCune-Albright Syndrome: clinical and translational insights 80
Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities 80
Alström{\textquotesingle}s Syndrome: Neurological Manifestations and Genetics 79
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders 77
ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrome: A case-based overview 77
Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature 77
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 75
Mitochondrial DNA involvement in patients with autism spectrum disorders and intellectual disability 74
Age-Related Neurodevelopmental Features in Children with Joubert Syndrome 74
Novel biallelic variants expand the phenotype of NAA20-related syndrome 72
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 71
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish 70
Genetic Background and Molecular Mechanisms of Juvenile Idiopathic Arthritis 70
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders 68
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy 67
KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review 65
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 65
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease 65
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder 64
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 64
Clinical and Neurophysiologic Phenotypes in Neonates with BRAT1 Encephalopathy 64
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies 62
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 61
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia 60
Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco 59
Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction 58
Benign familial infantile epilepsy associated with KCNQ3 mutation: a rare occurrence or an underestimated event? 57
Distinct gene-set burden patterns underlie common generalized and focal epilepsies 57
Diagnostic Approach to Macrocephaly in Children 57
Clinical and electroencephalographic features of epilepsy in patients with triple X syndrome: A case series 56
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 56
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome 56
Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery 54
A complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene cluster 53
Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function 52
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores 52
Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report 52
Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review 51
Correction to: Expanding the genetic heterogeneity of intellectual disability (Human Genetics, (2017), 136, 11-12, (1419-1429), 10.1007/s00439-017-1843-2) 51
Hydranencephaly in CENPJ-related Seckel syndrome 51
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases 51
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia 50
Atopy as a risk factor for thyroid autoimmunity in children 49
Prominent and regressive brain developmental disorders associated with nance-horan syndrome 48
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 48
Probiotics and Helicobacter pylori infection in children 48
Biallelic variants in kif17 associated with microphthalmia and coloboma spectrum 48
A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes 46
Mutations in TAF8 cause a neurodegenerative disorder 45
Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders 44
Temporal-parietal-occipital epilepsy in GEFS+ associated with SCN1A mutation 44
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy 43
De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype 41
Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review 41
Pioneers and Emerging Pediatric Neurologists and Epileptologists in the World Foreword 41
New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment 41
Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review 40
Selective Plasmatic Amino Acid Alterations as a Potential Biomarker for Pathological Stratification in Autism Spectrum Disorders 40
Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann−Steiner syndrome 38
Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders 33
Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abnormalities 32
Editorial: Genetically determined epilepsies: Perspectives in the era of precision medicine 29
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development 21
A mutational hotspot in TUBB2A associated with impaired heterodimer formation and severe brain developmental disorders 5
Totale 4.616
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Categoria #
all - tutte 23.583
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 23.583
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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
2025/20262.699 118 315 262 241 229 141 518 108 228 277 211 51
Totale 4.616