IRIS
ACCOGLI, ANDREA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
EU - Europa 3.871
AS - Asia 366
SA - Sud America 49
NA - Nord America 38
AF - Africa 6
Totale 4.330
Salva come PNG Salva come JPEG
Nazione #
IT - Italia 3.858
SG - Singapore 157
CN - Cina 100
VN - Vietnam 81
US - Stati Uniti d'America 30
BR - Brasile 26
AR - Argentina 15
HK - Hong Kong 13
MX - Messico 6
FR - Francia 3
BD - Bangladesh 2
CO - Colombia 2
ID - Indonesia 2
IN - India 2
IQ - Iraq 2
PY - Paraguay 2
RU - Federazione Russa 2
AT - Austria 1
BH - Bahrain 1
CL - Cile 1
CR - Costa Rica 1
DE - Germania 1
DO - Repubblica Dominicana 1
EC - Ecuador 1
EG - Egitto 1
ES - Italia 1
ET - Etiopia 1
FI - Finlandia 1
GA - Gabon 1
IE - Irlanda 1
IL - Israele 1
IR - Iran 1
KE - Kenya 1
KZ - Kazakistan 1
LB - Libano 1
MA - Marocco 1
NG - Nigeria 1
PE - Perù 1
PK - Pakistan 1
PL - Polonia 1
RO - Romania 1
SA - Arabia Saudita 1
SE - Svezia 1
UY - Uruguay 1
Totale 4.330
Salva come PNG Salva come JPEG
Città #
Genoa 1.933
Genova 1.021
Vado Ligure 461
Rapallo 415
Singapore 40
Ho Chi Minh City 34
Beijing 31
Ashburn 23
Bordighera 16
Hong Kong 13
Hanoi 11
Haiphong 7
Mexico City 4
Tianjin 4
Ferrandina 3
San Jose 3
Asunción 2
Bắc Ninh 2
Cabo Frio 2
Can Tho 2
Da Nang 2
Guarulhos 2
Hải Dương 2
Jaguariúna 2
Palermo 2
Quảng Ngãi 2
Thái Nguyên 2
Três Pontas 2
Turin 2
Abuja 1
Alexandria 1
Almaty 1
Amparo 1
Araruama 1
Baghdad 1
Basra 1
Bauru 1
Bogotá 1
Boston 1
Bucharest 1
Buenos Aires 1
Bình Dương 1
Campina Grande 1
Campo Grande 1
Carapicuíba 1
Chennai 1
Dublin 1
Ecatepec 1
Elk Grove Village 1
Ezeiza 1
Frankfurt am Main 1
General Pacheco 1
General Rodríguez 1
Golfito 1
González Catán 1
Guangzhou 1
Ha Long 1
Hamad Town 1
Helsinki 1
Indaiatuba 1
Isidro Casanova 1
Itapemirim 1
Itariri 1
Jakarta 1
Jiaxing 1
Lanús 1
Libreville 1
Lima 1
Loudi 1
Ludhiana 1
Lấp Vò 1
Makhachkala 1
Makkah 1
Marrakesh 1
Mendoza 1
Milan 1
Montevideo 1
Morón 1
Nairobi 1
Nazrēt 1
Ninh Bình 1
Niterói 1
Oberá 1
Orem 1
Paipa 1
Paris 1
Praia Grande 1
Presidente Prudente 1
Quito 1
Quảng Nam Province 1
Rafael Castillo 1
Rawalpindi 1
Recife 1
Resistencia 1
Rio do Sul 1
Salvador 1
San Rafael 1
Santa Cruz de Barahona 1
Santiago 1
Santo Tomé 1
Totale 4.116
Salva come PNG Salva come JPEG
Nome #
Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition? 195
Idiopathic Cervical Hematomyelia in an Infant: Spinal Cord Injury without Radiographic Abnormality Caused by a Trivial Trauma? Case Report and Review of the Literature 186
Surgical results of cranioplasty with a polymethylmethacrylate customized cranial implant in pediatric patients: A single-center experience 182
A novel pathogenic MYH3 mutation in a child with Sheldon–Hall syndrome and vertebral fusions 170
Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development 170
NovelAMPD2mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities 162
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations 148
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome 147
Chiari malformation type I: what information from the genetics? 144
Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia 126
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome 124
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 123
Genetic Screening of Pediatric Cavernous Malformations 117
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development 112
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 100
Musculoskeletal features without ataxia associated with a novel de novo mutation in KCNA1 impairing the voltage sensitivity of Kv1.1 channel 100
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 93
An eleven-year history of Vanishing White Matter Disease in an adult patient with no cognitive decline and EIF2B5 mutations. A case report 89
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 88
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 87
A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management 79
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders 76
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? 75
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy 75
Diagnostic Approach to Macrocephaly in Children 75
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy 74
Clinical, Endocrine and Neuroimaging Findings in Girls with Central Precocious Puberty 73
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI-anchored proteins 59
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum 58
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 58
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusion 58
Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review 58
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients 56
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 55
A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children 53
Novel biallelic variants expand the phenotype of NAA20-related syndrome 50
Imaging characteristics and neurosurgical outcome in subjects with agenesis of the corpus callosum and interhemispheric cyst 47
Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity 45
Imaging characteristics and neurosurgical outcome in subjects with agenesis of the corpus callosum and interhemispheric cysts 45
Biallelic PI4KA variants cause neurological, intestinal and immunological disease 45
Hydranencephaly in CENPJ-related Seckel syndrome 45
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities 45
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome 40
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34 39
Reply to Braun et al. “Novel bathing epilepsy in a patient with 2q22.3q23.2 deletion” 39
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency 38
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation 37
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females 34
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 32
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature 31
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes 31
Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum 24
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion 16
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity 15
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 14
Interstitial 9p24.3 deletion involving only DOCK8 and KANK1 genes in two patients with non-overlapping phenotypic traits 13
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations 11
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies 9
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder 8
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes 8
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome 7
Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder 7
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals 7
Totale 4.427
Salva come PNG Salva come JPEG
Categoria #
all - tutte 18.510
article - articoli 18.510
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 37.020
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021129 0 0 0 0 0 10 17 22 11 29 19 21
2021/2022289 15 17 16 21 21 23 6 46 33 42 11 38
2022/2023482 24 39 9 41 72 59 16 43 74 5 91 9
2023/2024386 12 45 13 63 24 67 32 16 17 19 31 47
2024/20251.364 73 68 34 101 127 125 109 273 74 70 161 149
2025/20261.121 296 73 154 173 377 48 0 0 0 0 0 0
Totale 4.427