IRIS
SALPIETRO DAMIANO, VINCENZO
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 323
EU - Europa 89
AS - Asia 83
SA - Sud America 3
Totale 498
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 323
IE - Irlanda 66
SG - Singapore 61
CN - Cina 22
IT - Italia 12
FI - Finlandia 7
BR - Brasile 3
DE - Germania 3
FR - Francia 1
Totale 498
Salva come PNG Salva come JPEG
Città #
Boardman 122
New York 76
Dublin 63
Los Angeles 62
Singapore 43
Ashburn 14
Dallas 9
Chandler 8
Lappeenranta 5
Shanghai 4
Rio de Janeiro 3
Washington 3
Bari 2
Guangzhou 2
Helsinki 2
North Charleston 2
Turin 2
Clifton 1
Frankfurt am Main 1
Lawrence 1
L’Aquila 1
Princeton 1
Rome 1
Seattle 1
Wilmington 1
Xuzhou 1
Totale 431
Salva come PNG Salva come JPEG
Nome #
Mapping the human genetic architecture of COVID-19 41
Meckel Syndrome: A Clinical and Molecular Overview 21
Bardet{\textendash}Biedl Syndrome: A Brief Overview on Clinics and Genetics 18
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease 18
Age-Related Neurodevelopmental Features in Children with Joubert Syndrome 18
Correction to: Expanding the genetic heterogeneity of intellectual disability (Human Genetics, (2017), 136, 11-12, (1419-1429), 10.1007/s00439-017-1843-2) 17
Pioneers and Emerging Pediatric Neurologists and Epileptologists in the World Foreword 17
Alström{\textquotesingle}s Syndrome: Neurological Manifestations and Genetics 16
Editorial: Genetically determined epilepsies: Perspectives in the era of precision medicine 12
Mitochondrial DNA involvement in patients with autism spectrum disorders and intellectual disability 12
Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation 11
Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities 10
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders 9
Epilepsy in Joubert Syndrome: A Still Few Explored Matter 9
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities 9
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders 9
Brain and eye involvement in McCune-Albright Syndrome: clinical and translational insights 9
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder 8
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 8
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients 8
Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery 8
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 8
Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 8
Clinical and electroencephalographic features of epilepsy in patients with triple X syndrome: A case series 7
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 7
KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review 7
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy 7
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome 7
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish 7
Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature 7
De novo KCNA6 variants with attenuated KV1.6 channel deactivation in patients with epilepsy 7
Genetic Background and Molecular Mechanisms of Juvenile Idiopathic Arthritis 7
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy 6
Benign familial infantile epilepsy associated with KCNQ3 mutation: a rare occurrence or an underestimated event? 6
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia 6
Diagnostic Approach to Macrocephaly in Children 6
Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 6
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 6
Probiotics and Helicobacter pylori infection in children 6
A complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene cluster 6
Biallelic variants in kif17 associated with microphthalmia and coloboma spectrum 6
ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrome: A case-based overview 6
Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report 6
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia 6
Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction 6
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome 6
Hydranencephaly in CENPJ-related Seckel syndrome 6
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases 6
Clinical and Neurophysiologic Phenotypes in Neonates with BRAT1 Encephalopathy 6
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 5
Temporal-parietal-occipital epilepsy in GEFS+ associated with SCN1A mutation 5
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 5
Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review 5
Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review 5
Distinct gene-set burden patterns underlie common generalized and focal epilepsies 5
Prominent and regressive brain developmental disorders associated with nance-horan syndrome 5
Mutations in TAF8 cause a neurodegenerative disorder 5
A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes 5
Atopy as a risk factor for thyroid autoimmunity in children 5
Novel biallelic variants expand the phenotype of NAA20-related syndrome 5
New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment 5
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies 4
Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function 4
De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype 4
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores 4
Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review 4
Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco 4
Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abnormalities 4
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders 3
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 3
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 3
Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders 3
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development 2
Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann−Steiner syndrome 2
Totale 573
Salva come PNG Salva come JPEG
Categoria #
all - tutte 6.427
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 6.427
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
2024/2025135 53 19 63 0 0 0 0 0 0 0 0 0
Totale 573