IRIS
CAPPUCCIO, GERARDA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
AS - Asia 3.511
NA - Nord America 2.722
EU - Europa 2.123
SA - Sud America 430
AF - Africa 94
OC - Oceania 9
Continente sconosciuto - Info sul continente non disponibili 4
Totale 8.893
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 2.618
SG - Singapore 1.577
RU - Federazione Russa 972
CN - Cina 597
VN - Vietnam 593
IT - Italia 469
BR - Brasile 343
HK - Hong Kong 326
DE - Germania 130
FR - Francia 127
NL - Olanda 106
IN - India 88
GB - Regno Unito 75
JP - Giappone 68
FI - Finlandia 60
CA - Canada 58
BD - Bangladesh 52
KR - Corea 47
AR - Argentina 38
IE - Irlanda 36
MX - Messico 30
CI - Costa d'Avorio 25
AT - Austria 24
ZA - Sudafrica 24
ES - Italia 21
TH - Thailandia 21
TR - Turchia 19
UA - Ucraina 19
SE - Svezia 18
PL - Polonia 17
IQ - Iraq 16
PH - Filippine 16
PK - Pakistan 13
CO - Colombia 12
ID - Indonesia 11
EC - Ecuador 10
IL - Israele 10
MA - Marocco 10
VE - Venezuela 9
BG - Bulgaria 8
CH - Svizzera 8
BE - Belgio 7
SA - Arabia Saudita 6
TN - Tunisia 6
TW - Taiwan 6
UZ - Uzbekistan 6
AZ - Azerbaigian 5
DZ - Algeria 5
JO - Giordania 5
KZ - Kazakistan 5
LT - Lituania 5
AU - Australia 4
CL - Cile 4
CR - Costa Rica 4
EG - Egitto 4
ET - Etiopia 4
NZ - Nuova Zelanda 4
PE - Perù 4
RO - Romania 4
AM - Armenia 3
BO - Bolivia 3
CZ - Repubblica Ceca 3
PS - Palestinian Territory 3
PT - Portogallo 3
PY - Paraguay 3
SY - Repubblica araba siriana 3
UY - Uruguay 3
AE - Emirati Arabi Uniti 2
AO - Angola 2
BY - Bielorussia 2
DO - Repubblica Dominicana 2
EU - Europa 2
IR - Iran 2
JM - Giamaica 2
KE - Kenya 2
KG - Kirghizistan 2
MN - Mongolia 2
MY - Malesia 2
NG - Nigeria 2
NO - Norvegia 2
NP - Nepal 2
RE - Reunion 2
RS - Serbia 2
XK - ???statistics.table.value.countryCode.XK??? 2
BH - Bahrain 1
BW - Botswana 1
BZ - Belize 1
DK - Danimarca 1
GN - Guinea 1
GP - Guadalupe 1
GR - Grecia 1
HN - Honduras 1
HR - Croazia 1
LB - Libano 1
LC - Santa Lucia 1
LV - Lettonia 1
MD - Moldavia 1
MG - Madagascar 1
ML - Mali 1
NI - Nicaragua 1
Totale 8.883
Salva come PNG Salva come JPEG
Città #
Singapore 710
San Jose 469
Hong Kong 306
Ashburn 267
Moscow 255
Chandler 213
Ho Chi Minh City 198
Hefei 172
Beijing 149
Hanoi 129
Santa Clara 126
The Dalles 93
Lauterbourg 86
Amsterdam 72
Millbury 65
Naples 65
Los Angeles 61
Tokyo 58
Des Moines 49
Boston 46
Lawrence 46
Dallas 41
Redondo Beach 41
Buffalo 37
New York 37
Nanjing 33
Houston 31
Napoli 31
Seoul 31
São Paulo 30
Da Nang 29
Munich 29
Princeton 24
Haiphong 23
Rome 23
Turku 23
Seattle 22
Wilmington 22
Nuremberg 21
Ottawa 21
Orem 19
Chicago 18
Milan 18
London 17
Mexico City 16
Chennai 15
Helsinki 15
Rio de Janeiro 15
Biên Hòa 14
Frankfurt am Main 14
Stockholm 14
Guangzhou 13
Phoenix 13
Brooklyn 12
Pune 12
Warsaw 12
Baghdad 11
Montreal 11
Turin 11
Boardman 10
Bologna 10
Council Bluffs 10
Falkenstein 10
Florence 10
Hải Dương 10
Johannesburg 10
Vienna 10
Bari 9
New Delhi 9
Toronto 9
Catania 8
Dublin 8
Kochi 8
Manchester 8
Nanchang 8
Washington 8
Bangkok 7
Denver 7
Lecce 7
Poplar 7
Woodbridge 7
Ankara 6
Atlanta 6
Belo Horizonte 6
Can Tho 6
Mumbai 6
Paris 6
Sofia 6
Amman 5
Baku 5
Bến Tre 5
Falls Church 5
Guarulhos 5
Hebei 5
Lahore 5
Ninh Bình 5
Porto Alegre 5
Ribeirão Preto 5
Secaucus 5
Tashkent 5
Totale 4.746
Salva come PNG Salva come JPEG
Nome #
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature 235
Sindrome di Gorlin: possibilità di una diagnosi precoce in bambini con macrocrania ? 164
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: Genotype-phenotype correlation and literature review. 158
The Treatment of Hypersalivation in Rett Syndrome with Botulinum Toxin: Efficacy and Clinical Implications 145
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 141
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome. 137
A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability 137
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature 136
New insights in the interpretation of array-CGH: Autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants 133
Clinical Description of a Patient Carrying the Smallest Reported Deletion Involving 10p14 Region 131
Otorhinolaryngological management in the Mucopolysaccharidoses 131
Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder 131
Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy 126
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22 123
Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies? 122
Variegated silencing throughepigenetic modifications of a large Xq region in a case of balanced X;2translocation with Incontinentia Pigmenti-like phenotype 121
Approcci diagnostico-terapeutici al dolore cronico delle patologie neurodegenerative: l'esempio delle leucodistrofie. 120
Low-dose amitriptyline-induced acute dystonia in a patient with metachromatic leukodystrophy. 120
Developmental delay, epilepsy and brain atrophy of different severity in two first cousins with methylenetetrahydrofolate reductase deficiency. 120
Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders 119
Corrigendum to: Expanding the phenotype of DST -related disorder: A case report suggesting a genotype/phenotype correlation (American Journal of Medical Genetics Part A, (2017), 173, 10, (2743-2746), 10.1002/ajmg.a.38367) 118
Variability in autism spectrum phenotypes linked to heterozygous missense familial ANK2 mutation 116
TREATMENT OF HYPERSALIVATION IN RETT SYNDROME WITH BOTULINUM TOXIN: EFFICACY AND CLINICAL IMPLICATIONS 116
Pearls & Oy-sters: Familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency. 114
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder 112
Two cases of 16q12.1q21 deletions and refinement of the critical region 112
Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation 111
L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study 110
Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype 107
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome 107
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants 107
Expansion of the phenotype of lateral meningocele syndrome 106
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant 105
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet 104
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability 104
Global metabolomic profiling unravels metabolite perturbations in Rett syndrome 103
Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female 101
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene 101
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females. 100
Varianti polimorfiche della regione 11q25:difficoltà di interpretazione dei risultati della array CGH. 96
VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database 92
Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene. 91
Giant breast tumors in a patient with Beckwith-Wiedemann syndrome. 87
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome 87
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders 86
Focal congenital lipoatrophy and vascular malformation: A mild form of inverse Klippel-Trenaunay syndrome? 86
Long-term efficacy of T3 analogue Triac in children and adults with MCT8 deficiency: a real-life retrospective cohort study 86
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum 85
Paralog Studies Augment Gene Discovery: DDX and DHX Genes 85
Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? 85
De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia 84
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders 83
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 83
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant 81
Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders 80
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype 76
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia 75
AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency 73
The use of iPSC-derived neurons to study neurological disorders. Human models as new tools for drug development and precision medicine 72
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum 71
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis 71
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders 69
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot 69
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 67
Clinical and functional consequences of C-terminal variants in MCT8: a case series 67
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease 67
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function 66
Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature 66
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease 65
Sphingolipid metabolism perturbations in rett syndrome 65
Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants 64
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders 64
A pilot clinical trial with losartan in Myhre syndrome 64
Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature 64
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study 63
Antibody Deficiency in Patients with Biallelic KARS1 Mutations 62
An extremely severe phenotype attributed to WDR81 nonsense mutations 62
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism 62
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects 62
De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome 61
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A) 61
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs 61
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy 61
Rubinstein-Taybi syndrome in diverse populations 60
Severe presentation and complex brain malformations in an individual carrying a CCND2 variant 59
Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18) 59
Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine 56
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability 56
Mild clinical presentation of joubert syndrome in a male adult carrying biallelic mks1 truncating variants 55
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4 55
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum 55
Long-term follow-up of an individual with ITPR1-related disorder 55
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder 54
Peculiar footprints in a child with agenesis of corpus callosum 53
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration 52
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome 52
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature 52
A clinical and genotype-phenotype analysis of MACF1 variants 51
DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome 46
A systematic cross-sectional survey of multiple sulfatase deficiency 43
Totale 8.944
Salva come PNG Salva come JPEG
Categoria #
all - tutte 29.914
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 29.914
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022362 6 2 6 5 17 10 6 14 28 28 76 164
2022/2023610 79 30 19 49 76 69 25 52 87 69 41 14
2023/2024548 41 86 48 45 22 64 23 53 11 22 77 56
2024/20252.370 137 145 13 26 79 109 284 133 186 307 754 197
2025/20264.728 562 406 496 476 736 173 499 293 645 261 123 58
Totale 9.022