IRIS
SIRCHIA, FABIO
 Distribuzione geografica
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Continente #
NA - Nord America 1.446
AS - Asia 1.202
EU - Europa 821
SA - Sud America 297
AF - Africa 58
OC - Oceania 4
Totale 3.828
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Nazione #
US - Stati Uniti d'America 1.370
SG - Singapore 298
CN - Cina 296
BR - Brasile 225
VN - Vietnam 219
IE - Irlanda 186
IT - Italia 160
HK - Hong Kong 151
RU - Federazione Russa 136
BD - Bangladesh 96
DE - Germania 73
FR - Francia 68
FI - Finlandia 57
GB - Regno Unito 56
IN - India 40
ZA - Sudafrica 36
CA - Canada 34
MX - Messico 27
AR - Argentina 26
IQ - Iraq 20
JP - Giappone 20
PL - Polonia 17
SE - Svezia 14
EC - Ecuador 13
AT - Austria 10
CO - Colombia 10
NL - Olanda 10
ES - Italia 8
TR - Turchia 8
ID - Indonesia 7
PK - Pakistan 7
CR - Costa Rica 6
UA - Ucraina 6
CH - Svizzera 5
CL - Cile 5
JO - Giordania 5
VE - Venezuela 5
AE - Emirati Arabi Uniti 4
ET - Etiopia 4
PT - Portogallo 4
DZ - Algeria 3
EG - Egitto 3
JM - Giamaica 3
LV - Lettonia 3
MA - Marocco 3
OM - Oman 3
PE - Perù 3
UY - Uruguay 3
UZ - Uzbekistan 3
AU - Australia 2
DO - Repubblica Dominicana 2
GY - Guiana 2
HN - Honduras 2
IL - Israele 2
IR - Iran 2
KE - Kenya 2
KR - Corea 2
KZ - Kazakistan 2
MY - Malesia 2
NG - Nigeria 2
NP - Nepal 2
NZ - Nuova Zelanda 2
PH - Filippine 2
PS - Palestinian Territory 2
PY - Paraguay 2
QA - Qatar 2
TN - Tunisia 2
AL - Albania 1
AO - Angola 1
AZ - Azerbaigian 1
BE - Belgio 1
BW - Botswana 1
CZ - Repubblica Ceca 1
DK - Danimarca 1
EE - Estonia 1
FK - Isole Falkland (Malvinas) 1
GF - Guiana Francese 1
GT - Guatemala 1
KG - Kirghizistan 1
KH - Cambogia 1
MN - Mongolia 1
RO - Romania 1
SA - Arabia Saudita 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
SR - Suriname 1
SV - El Salvador 1
TH - Thailandia 1
YE - Yemen 1
ZM - Zambia 1
Totale 3.828
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Città #
San Jose 231
Dublin 184
Dallas 164
Hong Kong 148
Singapore 147
Ashburn 127
Beijing 92
Ho Chi Minh City 87
Chandler 83
Boardman 67
Lauterbourg 53
Los Angeles 51
Hanoi 44
Council Bluffs 41
Helsinki 36
Redondo Beach 36
New York 32
Johannesburg 30
Milan 30
Munich 30
Princeton 30
Shanghai 30
Buffalo 29
Lawrence 29
São Paulo 25
Turku 20
Moscow 18
Medford 17
Tokyo 17
Montreal 16
Orem 16
Denver 14
Warsaw 14
London 13
Mexico City 13
Frankfurt am Main 12
Stockholm 12
Chennai 11
Nuremberg 11
Chicago 10
Florence 10
Haiphong 10
Atlanta 9
Santa Clara 9
Bologna 8
Da Nang 8
Detroit 8
Poplar 8
Rio de Janeiro 8
Rome 8
Turin 8
Baghdad 7
Boston 7
Brooklyn 7
Pavia 7
San Francisco 7
Quảng Ngãi 6
San José 6
Secaucus 6
Amman 5
Charlotte 5
Dhaka 5
Guayaquil 5
Hải Dương 5
Manchester 5
Medellín 5
Phoenix 5
Piscataway 5
Seattle 5
The Dalles 5
Thái Nguyên 5
Toronto 5
Biên Hòa 4
Cagliari 4
Columbus 4
Düsseldorf 4
Elk Grove Village 4
Genoa 4
Houston 4
Jakarta 4
Lisbon 4
Porto Alegre 4
Xi'an 4
Addis Ababa 3
Ankara 3
Belo Horizonte 3
Brasília 3
Buenos Aires 3
Cairo 3
Campinas 3
Can Tho 3
Caracas 3
Changsha 3
Curitiba 3
Delhi 3
Falkenstein 3
Goiânia 3
Guarulhos 3
Ha Long 3
Jundiaí 3
Totale 2.377
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Nome #
46, XY Disorders of Sexual Development: a case report and its theoretical framework 110
Loss-of-function mutation in the FLG gene is associated with a complex atopic phenotype with hyper-IgE 108
Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency 104
SIMPSON-GOLABI-BEHMEL syndrome type 1: How placental immunohistochemistry can rapidly Predict the diagnosis 97
Mitochondrial Complex I Deficiency: Unraveling the Relevance of NDUFAF1 in Pediatric Hypertrophic Cardiomyopathy 93
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract 93
A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10 93
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q 92
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes 88
Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver–Russell Syndrome and Focus on the IGF1R Gene 87
A Novel Pathogenic Variant in CRB1 as the Cause of Non‐Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy 86
Early Developmental Intervention and Enriched Environment in CDKL5 Developmental and Epileptic Encephalopathy 85
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes 85
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature 84
Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature 84
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease 80
Expanding the mutational spectrum of ReNU syndrome: insights into 5’ Stem-loop variants 78
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome 78
Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency 77
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother 74
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification 74
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis 73
Corrigendum to “Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency” [Immunol. Lett. 214 (2019) 52–54](S0165247819302342)(10.1016/j.imlet.2019.08.003) 72
Dental anomalies as a possible clue of 1p36 deletion syndrome due to germline mosaicism: A case report 71
Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH) 71
Pulmonary Arterial Hypertension Onset in an Adult Woman With a TBX4 Likely Pathogenic Variant Following Imatinib Administration: A Case Report 70
Mosaic Williams syndrome: A case report 66
De novo RANBP2 variant in a fetal demise case with cerebral intraparenchymal hemorrhage 65
New Tools for Congenital Hyperinsulinism 65
Expanding the Spectrum of Autosomal Dominant ATP6V1A-Related Disease: Case Report and Literature Review 62
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques 61
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient 60
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG) 58
Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question 57
Beneficial effect of gabapentin in two children with Noonan syndrome and early-onset neuropathic pain 54
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy 51
Genomic studies in a large cohort of hearing impaired italian patients revealed several new alleles, a rare case of uniparental disomy (Upd) and the importance to search for copy number variations 49
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules 48
Genetic and Phenotypic Features of 2 Northern Italy Families with Dowling-Degos Disease Type 4 47
A Girl with Delayed Puberty and Bumpy Lips 46
KIRREL3-related disorders: a case report confirming the radiological features and expanding the clinical spectrum to a less severe phenotype 45
First-trimester absent nasal bone: is it a predictive factor for pathogenic CNVs in the low-risk population? 45
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort 45
Genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: a comparison with Fanconi anemia 45
Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency 44
Definition and prevalence of familial short stature 44
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development 44
Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome 42
Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis 41
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy 40
Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis 38
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease 37
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother 37
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder 35
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease 35
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles 34
The impact of clinical genome sequencing in a global population with suspected rare genetic disease 34
When Long-Lasting Food Selectivity Leads to an Unusual Genetic Diagnosis: A Case Report 32
From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature 31
Obliterated cavum septi pellucidi: is it always a benign finding? A case report and narrative review of the literature 30
The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders 29
Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency 29
Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe 29
Mismatch repair deficiency in multifocal gastric epithelial neoplasia and non-dysplastic glands: Harbinger of Lynch syndrome in an autoimmune gastritis patient 28
Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing 28
Totale 3.917
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Categoria #
all - tutte 17.615
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 17.615
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022100 0 0 0 0 0 0 0 12 19 0 6 63
2022/2023334 39 31 2 7 15 19 0 19 198 0 3 1
2023/2024210 34 17 2 13 16 14 33 2 2 2 25 50
2024/2025776 12 41 6 22 25 34 40 36 212 46 73 229
2025/20262.497 157 194 244 410 271 84 329 133 250 168 169 88
Totale 3.917