IRIS
ACCOGLI, ANDREA
 Distribuzione geografica
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Continente #
EU - Europa 3.921
AS - Asia 862
NA - Nord America 749
Continente sconosciuto - Info sul continente non disponibili 104
SA - Sud America 74
AF - Africa 13
Totale 5.723
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Nazione #
IT - Italia 3.825
US - Stati Uniti d'America 700
SG - Singapore 332
CN - Cina 197
VN - Vietnam 144
BD - Bangladesh 95
HK - Hong Kong 35
BR - Brasile 34
FR - Francia 29
CA - Canada 26
AR - Argentina 19
DE - Germania 15
IN - India 10
JP - Giappone 10
GB - Regno Unito 8
MX - Messico 8
FI - Finlandia 7
PL - Polonia 7
NL - Olanda 6
PK - Pakistan 6
PY - Paraguay 5
CO - Colombia 4
ID - Indonesia 4
IQ - Iraq 4
JM - Giamaica 4
JO - Giordania 4
SA - Arabia Saudita 4
SV - El Salvador 4
CL - Cile 3
RU - Federazione Russa 3
TR - Turchia 3
UZ - Uzbekistan 3
AT - Austria 2
CR - Costa Rica 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
MD - Moldavia 2
PE - Perù 2
PH - Filippine 2
PT - Portogallo 2
RO - Romania 2
UY - Uruguay 2
VE - Venezuela 2
BH - Bahrain 1
BM - Bermuda 1
BO - Bolivia 1
BY - Bielorussia 1
CG - Congo 1
CH - Svizzera 1
DO - Repubblica Dominicana 1
GA - Gabon 1
GM - Gambi 1
GR - Grecia 1
GT - Guatemala 1
HN - Honduras 1
KE - Kenya 1
KZ - Kazakistan 1
LT - Lituania 1
LU - Lussemburgo 1
MK - Macedonia 1
NG - Nigeria 1
NI - Nicaragua 1
OM - Oman 1
SE - Svezia 1
SI - Slovenia 1
TN - Tunisia 1
UA - Ucraina 1
ZA - Sudafrica 1
Totale 5.619
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Città #
Genoa 1.844
Genova 1.021
Vado Ligure 439
Rapallo 415
San Jose 162
Singapore 160
Ashburn 119
Ho Chi Minh City 45
Beijing 44
Hong Kong 34
New York 31
Los Angeles 25
Hanoi 23
Lauterbourg 21
Bordighera 16
Council Bluffs 16
Haiphong 13
Santa Clara 13
Frankfurt am Main 12
Montreal 12
Rome 11
Buffalo 10
Houston 9
Milan 9
Da Nang 7
Helsinki 7
Tokyo 7
Warsaw 7
Chicago 6
City of London 6
Orem 6
Philadelphia 6
Atlanta 5
Dallas 5
Mexico City 5
Naples 5
Phoenix 5
Tianjin 5
Toronto 5
Boardman 4
Hải Dương 4
The Bronx 4
Turin 4
Albuquerque 3
Amsterdam 3
Boston 3
Can Tho 3
Denver 3
Ferrandina 3
Huntsville 3
Jacksonville 3
Milwaukee 3
Newark 3
Paris 3
San Salvador 3
Tashkent 3
Thái Nguyên 3
Trento 3
Asunción 2
Bogotá 2
Cabo Frio 2
Carapicuíba 2
Charlotte 2
Chennai 2
Elgin 2
Guarulhos 2
Hamburg 2
Jaguariúna 2
Kansas City 2
Kingston 2
Knoxville 2
Lahore 2
Lansdowne 2
Lawton 2
Lima 2
Marseille 2
Medina 2
Miami 2
Miano 2
Minneapolis 2
Montevideo 2
Niterói 2
Oklahoma City 2
Palermo 2
Pinole 2
Pisa 2
Port Saint Lucie 2
Presidente Prudente 2
Queens 2
San Francisco 2
Shanghai 2
Sioux Falls 2
São Paulo 2
Tacoma 2
The Dalles 2
Três Pontas 2
Venice 2
Winnipeg 2
Abuja 1
Addis Ababa 1
Totale 4.734
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Nome #
Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition? 224
Surgical results of cranioplasty with a polymethylmethacrylate customized cranial implant in pediatric patients: A single-center experience 210
Idiopathic Cervical Hematomyelia in an Infant: Spinal Cord Injury without Radiographic Abnormality Caused by a Trivial Trauma? Case Report and Review of the Literature 210
A novel pathogenic MYH3 mutation in a child with Sheldon–Hall syndrome and vertebral fusions 202
Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development 197
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome 187
NovelAMPD2mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities 184
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations 179
Chiari malformation type I: what information from the genetics? 169
Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia 145
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 141
An eleven-year history of Vanishing White Matter Disease in an adult patient with no cognitive decline and EIF2B5 mutations. A case report 140
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development 140
Musculoskeletal features without ataxia associated with a novel de novo mutation in KCNA1 impairing the voltage sensitivity of Kv1.1 channel 140
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome 139
Genetic Screening of Pediatric Cavernous Malformations 135
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders 128
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 128
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 123
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 119
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 112
Diagnostic Approach to Macrocephaly in Children 112
A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management 110
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy 108
Clinical, Endocrine and Neuroimaging Findings in Girls with Central Precocious Puberty 105
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients 103
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? 101
Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review 95
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 93
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy 91
A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children 85
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusion 83
Biallelic PI4KA variants cause neurological, intestinal and immunological disease 83
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum 79
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 79
Novel biallelic variants expand the phenotype of NAA20-related syndrome 79
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI-anchored proteins 78
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency 71
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities 69
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation 65
Hydranencephaly in CENPJ-related Seckel syndrome 64
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome 64
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34 53
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes 49
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females 49
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 48
Reply to Braun et al. “Novel bathing epilepsy in a patient with 2q22.3q23.2 deletion” 48
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature 43
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals 36
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations 35
Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum 32
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion 31
Interstitial 9p24.3 deletion involving only DOCK8 and KANK1 genes in two patients with non-overlapping phenotypic traits 30
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies 27
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity 25
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder 24
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes 24
Totale 5.723
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Categoria #
all - tutte 21.408
article - articoli 21.408
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 42.816
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2025/20262.321 279 73 151 164 338 147 273 123 203 193 173 204
2026/2027191 191 0 0 0 0 0 0 0 0 0 0 0
Totale 5.723