IRIS
ACCOGLI, ANDREA
 Distribuzione geografica
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Continente #
EU - Europa 3.858
AS - Asia 753
NA - Nord America 351
SA - Sud America 71
AF - Africa 13
Totale 5.046
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Nazione #
IT - Italia 3.766
US - Stati Uniti d'America 336
SG - Singapore 335
CN - Cina 179
VN - Vietnam 142
BR - Brasile 33
HK - Hong Kong 33
FR - Francia 30
AR - Argentina 19
DE - Germania 16
JP - Giappone 11
IN - India 10
BD - Bangladesh 8
GB - Regno Unito 8
FI - Finlandia 7
MX - Messico 7
CA - Canada 6
PL - Polonia 6
NL - Olanda 5
PY - Paraguay 5
CO - Colombia 4
ID - Indonesia 4
IQ - Iraq 4
PK - Pakistan 4
SA - Arabia Saudita 4
CL - Cile 3
JO - Giordania 3
RU - Federazione Russa 3
TR - Turchia 3
AT - Austria 2
EC - Ecuador 2
EG - Egitto 2
ES - Italia 2
ET - Etiopia 2
IE - Irlanda 2
IL - Israele 2
IR - Iran 2
LB - Libano 2
MA - Marocco 2
PE - Perù 2
PH - Filippine 2
UY - Uruguay 2
UZ - Uzbekistan 2
BH - Bahrain 1
BY - Bielorussia 1
CG - Congo 1
CH - Svizzera 1
CR - Costa Rica 1
DO - Repubblica Dominicana 1
GA - Gabon 1
GM - Gambi 1
GR - Grecia 1
KE - Kenya 1
KZ - Kazakistan 1
LT - Lituania 1
LU - Lussemburgo 1
MD - Moldavia 1
MK - Macedonia 1
NG - Nigeria 1
OM - Oman 1
PT - Portogallo 1
RO - Romania 1
SE - Svezia 1
SI - Slovenia 1
TN - Tunisia 1
VE - Venezuela 1
ZA - Sudafrica 1
Totale 5.046
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Città #
Genoa 1.842
Genova 1.021
Vado Ligure 439
Rapallo 415
Singapore 159
San Jose 99
Ashburn 75
Ho Chi Minh City 45
Hong Kong 33
Beijing 32
Hanoi 22
Lauterbourg 21
New York 20
Bordighera 16
Council Bluffs 16
Frankfurt am Main 13
Haiphong 13
Los Angeles 13
Santa Clara 9
Tokyo 8
Helsinki 7
City of London 6
Da Nang 6
Orem 6
Warsaw 6
Montreal 5
Buffalo 4
Can Tho 4
Hải Dương 4
Mexico City 4
Tianjin 4
Amsterdam 3
Ferrandina 3
Milan 3
Paris 3
Thái Nguyên 3
Turin 3
Asunción 2
Atlanta 2
Bogotá 2
Boston 2
Cabo Frio 2
Carapicuíba 2
Chennai 2
Chicago 2
Guarulhos 2
Hamburg 2
Jaguariúna 2
Lima 2
Marseille 2
Medina 2
Montevideo 2
Niterói 2
Palermo 2
Pisa 2
Presidente Prudente 2
Shanghai 2
São Paulo 2
Tashkent 2
Três Pontas 2
Abuja 1
Addis Ababa 1
Alexandria 1
Almaty 1
Ambāla 1
Amman 1
Amparo 1
An Giang Province 1
Ankara 1
Araruama 1
Athens 1
Baghdad 1
Bandar Lampung 1
Banjul 1
Basra 1
Bauru 1
Bel Air 1
Bhopal 1
Boardman 1
Brazzaville 1
Bristol 1
Bucharest 1
Buenos Aires 1
Bình Dương 1
Bắc Ninh 1
Bến Tre 1
Cairo 1
Caloocan 1
Campo Grande 1
Caracas 1
Casablanca 1
Cebu City 1
Chandigarh 1
Charlotte 1
Chhindwāra 1
Chillán 1
Cleveland 1
Denver 1
Dhaka 1
Dublin 1
Totale 4.471
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Nome #
Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition? 211
Idiopathic Cervical Hematomyelia in an Infant: Spinal Cord Injury without Radiographic Abnormality Caused by a Trivial Trauma? Case Report and Review of the Literature 201
Surgical results of cranioplasty with a polymethylmethacrylate customized cranial implant in pediatric patients: A single-center experience 199
A novel pathogenic MYH3 mutation in a child with Sheldon–Hall syndrome and vertebral fusions 190
Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development 188
NovelAMPD2mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities 178
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome 175
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations 168
Chiari malformation type I: what information from the genetics? 164
Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia 139
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome 131
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 131
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development 129
Genetic Screening of Pediatric Cavernous Malformations 128
An eleven-year history of Vanishing White Matter Disease in an adult patient with no cognitive decline and EIF2B5 mutations. A case report 122
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders 116
Musculoskeletal features without ataxia associated with a novel de novo mutation in KCNA1 impairing the voltage sensitivity of Kv1.1 channel 116
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 114
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 113
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 104
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 103
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy 99
A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management 97
Clinical, Endocrine and Neuroimaging Findings in Girls with Central Precocious Puberty 93
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? 91
Diagnostic Approach to Macrocephaly in Children 91
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy 80
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients 78
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 75
Novel biallelic variants expand the phenotype of NAA20-related syndrome 75
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusion 74
Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review 74
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum 72
A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children 71
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI-anchored proteins 70
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 67
Biallelic PI4KA variants cause neurological, intestinal and immunological disease 65
Hydranencephaly in CENPJ-related Seckel syndrome 57
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities 57
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency 57
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome 49
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34 49
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation 48
Reply to Braun et al. “Novel bathing epilepsy in a patient with 2q22.3q23.2 deletion” 44
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes 41
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females 41
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 39
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature 36
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals 28
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations 27
Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum 27
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion 27
Interstitial 9p24.3 deletion involving only DOCK8 and KANK1 genes in two patients with non-overlapping phenotypic traits 26
Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder 23
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity 22
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies 19
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder 17
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes 12
Totale 5.138
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Categoria #
all - tutte 19.168
article - articoli 19.168
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 38.336
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202169 0 0 0 0 0 0 0 0 0 29 19 21
2021/2022289 15 17 16 21 21 23 6 46 33 42 11 38
2022/2023481 24 39 9 41 72 59 16 43 74 5 90 9
2023/2024372 12 45 12 61 24 65 30 15 15 18 30 45
2024/20251.284 66 65 32 95 123 120 105 252 68 65 151 142
2025/20261.927 279 73 151 165 343 149 276 127 208 156 0 0
Totale 5.138