IRIS
SALPIETRO DAMIANO, VINCENZO
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
AS - Asia 606
NA - Nord America 543
EU - Europa 380
SA - Sud America 157
AF - Africa 6
Totale 1.692
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 537
SG - Singapore 314
HK - Hong Kong 181
RU - Federazione Russa 175
BR - Brasile 145
CN - Cina 85
IE - Irlanda 66
IT - Italia 61
DE - Germania 29
FI - Finlandia 23
GB - Regno Unito 9
FR - Francia 6
AT - Austria 4
NL - Olanda 4
AR - Argentina 3
BD - Bangladesh 3
EC - Ecuador 3
TR - Turchia 3
UZ - Uzbekistan 3
CA - Canada 2
GE - Georgia 2
MA - Marocco 2
NI - Nicaragua 2
PK - Pakistan 2
PS - Palestinian Territory 2
TN - Tunisia 2
UY - Uruguay 2
AL - Albania 1
CI - Costa d'Avorio 1
CO - Colombia 1
GT - Guatemala 1
HR - Croazia 1
ID - Indonesia 1
IL - Israele 1
IQ - Iraq 1
JO - Giordania 1
KE - Kenya 1
KG - Kirghizistan 1
KW - Kuwait 1
LB - Libano 1
MN - Mongolia 1
PA - Panama 1
PE - Perù 1
PH - Filippine 1
PY - Paraguay 1
SA - Arabia Saudita 1
SY - Repubblica araba siriana 1
UA - Ucraina 1
VE - Venezuela 1
Totale 1.692
Salva come PNG Salva come JPEG
Città #
Hong Kong 181
Singapore 173
Santa Clara 148
Boardman 133
New York 77
Los Angeles 64
Dublin 63
Moscow 43
L’Aquila 30
Ashburn 15
Helsinki 15
São Paulo 13
Pescara 10
Shanghai 10
The Dalles 10
Dallas 9
Rio de Janeiro 9
Chandler 8
Frankfurt am Main 8
Lappeenranta 8
Düsseldorf 7
Assago 6
Munich 6
Belo Horizonte 5
Falkenstein 5
London 5
Wuhan 4
Guangzhou 3
Jequié 3
Pelotas 3
Portsmouth 3
Vienna 3
Washington 3
Bari 2
Beijing 2
Belford Roxo 2
Brasília 2
Camaçari 2
Cariacica 2
Dhaka 2
Franco da Rocha 2
Managua 2
Mariana 2
Montevideo 2
Nablus 2
Newark 2
North Charleston 2
Porto Alegre 2
Recife 2
Ribeirão Preto 2
Santo André 2
Shijiazhuang 2
São José dos Campos 2
Tangier 2
Tashkent 2
Tbilisi 2
Tucuruí 2
Turin 2
Valparaíso de Goiás 2
Abidjan 1
Alegre 1
Alhandra 1
Almirante Tamandaré 1
Altamura 1
Amman 1
Amontada 1
Amsterdam 1
Anchieta 1
Andradina 1
Ankara 1
Aparecida de Goiânia 1
Araçariguama 1
Asunción 1
Ate 1
Atibaia 1
Ben Arous 1
Benxi 1
Betim 1
Bom Jesus dos Perdões 1
Bucaramanga 1
Buenos Aires 1
Cachoeira do Sul 1
Cambé 1
Campinas 1
Carapicuíba 1
Cascavel 1
Castelo do Piauí 1
Cataguases 1
Caxias do Sul 1
Cayambe 1
Cedro 1
Changsha 1
Chapecó 1
Cidade Ocidental 1
Clifton 1
Colatina 1
Colombo 1
Corumbá 1
Diamantina 1
Dongguan 1
Totale 1.176
Salva come PNG Salva come JPEG
Nome #
Mapping the human genetic architecture of COVID-19 58
Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 52
Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature 46
Meckel Syndrome: A Clinical and Molecular Overview 38
Epilepsy in Joubert Syndrome: A Still Few Explored Matter 36
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders 35
Bardet{\textendash}Biedl Syndrome: A Brief Overview on Clinics and Genetics 34
Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation 33
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease 33
Age-Related Neurodevelopmental Features in Children with Joubert Syndrome 33
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 31
Alström{\textquotesingle}s Syndrome: Neurological Manifestations and Genetics 31
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome 31
Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 31
Mitochondrial DNA involvement in patients with autism spectrum disorders and intellectual disability 30
De novo KCNA6 variants with attenuated KV1.6 channel deactivation in patients with epilepsy 29
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities 28
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder 27
Correction to: Expanding the genetic heterogeneity of intellectual disability (Human Genetics, (2017), 136, 11-12, (1419-1429), 10.1007/s00439-017-1843-2) 27
Brain and eye involvement in McCune-Albright Syndrome: clinical and translational insights 26
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish 26
Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities 26
Benign familial infantile epilepsy associated with KCNQ3 mutation: a rare occurrence or an underestimated event? 25
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients 25
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 25
Pioneers and Emerging Pediatric Neurologists and Epileptologists in the World Foreword 25
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 25
Genetic Background and Molecular Mechanisms of Juvenile Idiopathic Arthritis 25
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders 24
ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrome: A case-based overview 24
Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction 24
Novel biallelic variants expand the phenotype of NAA20-related syndrome 24
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 23
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies 23
Prominent and regressive brain developmental disorders associated with nance-horan syndrome 23
Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco 23
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy 22
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders 22
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia 22
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 22
KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review 22
Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review 22
Diagnostic Approach to Macrocephaly in Children 22
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 22
Clinical and Neurophysiologic Phenotypes in Neonates with BRAT1 Encephalopathy 22
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 21
Hydranencephaly in CENPJ-related Seckel syndrome 21
Editorial: Genetically determined epilepsies: Perspectives in the era of precision medicine 20
De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype 20
Probiotics and Helicobacter pylori infection in children 20
A complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene cluster 20
Clinical and electroencephalographic features of epilepsy in patients with triple X syndrome: A case series 19
Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery 19
Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report 19
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia 19
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome 18
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 17
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy 17
Distinct gene-set burden patterns underlie common generalized and focal epilepsies 17
Biallelic variants in kif17 associated with microphthalmia and coloboma spectrum 17
Atopy as a risk factor for thyroid autoimmunity in children 17
Temporal-parietal-occipital epilepsy in GEFS+ associated with SCN1A mutation 16
Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review 16
Mutations in TAF8 cause a neurodegenerative disorder 16
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases 16
New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment 16
Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function 15
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores 15
A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes 15
Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann−Steiner syndrome 15
Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders 15
Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review 13
Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abnormalities 13
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development 8
Totale 1.767
Salva come PNG Salva come JPEG
Categoria #
all - tutte 13.467
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 13.467
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20229 0 0 0 0 0 5 0 0 0 0 1 3
2022/202375 2 8 1 1 1 1 4 1 48 0 5 3
2023/2024354 4 1 71 61 4 118 1 6 0 49 22 17
2024/20251.329 53 19 123 54 217 170 200 111 296 83 3 0
Totale 1.767