IRIS
ACCOGLI, ANDREA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
EU - Europa 3.933
NA - Nord America 931
AS - Asia 872
Continente sconosciuto - Info sul continente non disponibili 104
SA - Sud America 80
AF - Africa 13
Totale 5.933
Salva come PNG Salva come JPEG
Nazione #
IT - Italia 3.833
US - Stati Uniti d'America 868
SG - Singapore 332
CN - Cina 200
VN - Vietnam 145
BD - Bangladesh 96
BR - Brasile 37
HK - Hong Kong 36
CA - Canada 30
FR - Francia 29
AR - Argentina 19
DE - Germania 15
GB - Regno Unito 11
IN - India 10
JP - Giappone 10
MX - Messico 9
FI - Finlandia 7
JM - Giamaica 7
NL - Olanda 7
PL - Polonia 7
CO - Colombia 6
PK - Pakistan 6
ID - Indonesia 5
PY - Paraguay 5
SA - Arabia Saudita 5
IQ - Iraq 4
JO - Giordania 4
SV - El Salvador 4
CL - Cile 3
CR - Costa Rica 3
PH - Filippine 3
RU - Federazione Russa 3
TR - Turchia 3
UZ - Uzbekistan 3
VE - Venezuela 3
AT - Austria 2
EC - Ecuador 2
EG - Egitto 2
ES - Italia 2
ET - Etiopia 2
GT - Guatemala 2
IE - Irlanda 2
IL - Israele 2
IR - Iran 2
KZ - Kazakistan 2
LB - Libano 2
MA - Marocco 2
MD - Moldavia 2
PE - Perù 2
PT - Portogallo 2
RO - Romania 2
UY - Uruguay 2
BB - Barbados 1
BH - Bahrain 1
BM - Bermuda 1
BO - Bolivia 1
BS - Bahamas 1
BY - Bielorussia 1
CG - Congo 1
CH - Svizzera 1
DO - Repubblica Dominicana 1
GA - Gabon 1
GM - Gambi 1
GR - Grecia 1
HN - Honduras 1
KE - Kenya 1
LT - Lituania 1
LU - Lussemburgo 1
MK - Macedonia 1
NG - Nigeria 1
NI - Nicaragua 1
OM - Oman 1
PR - Porto Rico 1
SE - Svezia 1
SI - Slovenia 1
TN - Tunisia 1
TT - Trinidad e Tobago 1
UA - Ucraina 1
ZA - Sudafrica 1
Totale 5.829
Salva come PNG Salva come JPEG
Città #
Genoa 1.844
Genova 1.021
Vado Ligure 439
Rapallo 415
San Jose 185
Singapore 160
Ashburn 142
Beijing 46
Ho Chi Minh City 45
Hong Kong 35
New York 33
Los Angeles 28
Hanoi 24
Lauterbourg 21
Council Bluffs 17
Santa Clara 17
Bordighera 16
Buffalo 14
Haiphong 13
Milan 13
Montreal 13
Frankfurt am Main 12
Rome 11
Chicago 10
Houston 10
Phoenix 9
Dallas 8
Philadelphia 8
Da Nang 7
Helsinki 7
Tokyo 7
Warsaw 7
City of London 6
Orem 6
Atlanta 5
Mexico City 5
Naples 5
Tianjin 5
Toronto 5
Boardman 4
Boston 4
Hải Dương 4
Kingston 4
The Bronx 4
Turin 4
Albuquerque 3
Amsterdam 3
Brasília 3
Can Tho 3
Charlotte 3
Cleveland 3
Denver 3
Ferrandina 3
Huntsville 3
Jacksonville 3
Kansas City 3
Miami 3
Milwaukee 3
Newark 3
Oklahoma City 3
Paris 3
San Francisco 3
San Salvador 3
Tashkent 3
Thái Nguyên 3
Trento 3
Winnipeg 3
Asunción 2
Bogotá 2
Cabo Frio 2
Carapicuíba 2
Catania 2
Chattanooga 2
Chennai 2
Cincinnati 2
Concord 2
Detroit 2
Elgin 2
Fayetteville 2
Guarulhos 2
Guatemala City 2
Hamburg 2
Indianapolis 2
Jackson 2
Jaguariúna 2
Kissimmee 2
Knoxville 2
Lahore 2
Lansdowne 2
Lawton 2
Lexington 2
Lima 2
Louisville 2
Maracaibo 2
Marseille 2
Medina 2
Miano 2
Minneapolis 2
Montevideo 2
Montgomery 2
Totale 4.830
Salva come PNG Salva come JPEG
Nome #
Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition? 227
Idiopathic Cervical Hematomyelia in an Infant: Spinal Cord Injury without Radiographic Abnormality Caused by a Trivial Trauma? Case Report and Review of the Literature 213
Surgical results of cranioplasty with a polymethylmethacrylate customized cranial implant in pediatric patients: A single-center experience 212
Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development 205
A novel pathogenic MYH3 mutation in a child with Sheldon–Hall syndrome and vertebral fusions 204
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome 190
NovelAMPD2mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities 187
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations 183
Chiari malformation type I: what information from the genetics? 172
An eleven-year history of Vanishing White Matter Disease in an adult patient with no cognitive decline and EIF2B5 mutations. A case report 148
Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia 148
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 147
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome 143
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development 143
Musculoskeletal features without ataxia associated with a novel de novo mutation in KCNA1 impairing the voltage sensitivity of Kv1.1 channel 141
Genetic Screening of Pediatric Cavernous Malformations 137
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders 136
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 133
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 132
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 123
Diagnostic Approach to Macrocephaly in Children 116
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 114
A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management 113
Clinical, Endocrine and Neuroimaging Findings in Girls with Central Precocious Puberty 113
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy 112
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients 107
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? 104
Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review 99
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 96
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy 94
A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children 90
Biallelic PI4KA variants cause neurological, intestinal and immunological disease 89
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusion 88
Novel biallelic variants expand the phenotype of NAA20-related syndrome 83
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum 81
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI-anchored proteins 80
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 79
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency 75
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities 72
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation 69
Hydranencephaly in CENPJ-related Seckel syndrome 66
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome 65
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34 56
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes 54
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females 52
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 51
Reply to Braun et al. “Novel bathing epilepsy in a patient with 2q22.3q23.2 deletion” 50
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature 47
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals 41
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations 38
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion 37
Interstitial 9p24.3 deletion involving only DOCK8 and KANK1 genes in two patients with non-overlapping phenotypic traits 32
Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum 32
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies 30
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder 28
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity 28
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes 28
Totale 5.933
Salva come PNG Salva come JPEG
Categoria #
all - tutte 22.603
article - articoli 22.603
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 45.206
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022257 0 0 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
2025/20262.321 279 73 151 164 338 147 273 123 203 193 173 204
2026/2027401 195 108 98 0 0 0 0 0 0 0 0 0
Totale 5.933