IRIS
SIRCHIA, FABIO
 Distribuzione geografica
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Continente #
NA - Nord America 964
AS - Asia 761
EU - Europa 680
SA - Sud America 247
AF - Africa 22
OC - Oceania 2
Totale 2.676
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Nazione #
US - Stati Uniti d'America 908
CN - Cina 234
BR - Brasile 205
SG - Singapore 205
IE - Irlanda 184
HK - Hong Kong 139
RU - Federazione Russa 135
IT - Italia 117
VN - Vietnam 101
DE - Germania 62
FI - Finlandia 57
GB - Regno Unito 49
MX - Messico 26
CA - Canada 23
AR - Argentina 17
JP - Giappone 16
PL - Polonia 14
SE - Svezia 13
ZA - Sudafrica 13
IN - India 12
BD - Bangladesh 11
EC - Ecuador 10
AT - Austria 9
FR - Francia 9
IQ - Iraq 8
NL - Olanda 7
ES - Italia 6
CH - Svizzera 5
ID - Indonesia 5
TR - Turchia 5
UA - Ucraina 5
AE - Emirati Arabi Uniti 4
CL - Cile 4
EG - Egitto 3
PT - Portogallo 3
CO - Colombia 2
HN - Honduras 2
IL - Israele 2
IR - Iran 2
JM - Giamaica 2
KE - Kenya 2
KR - Corea 2
KZ - Kazakistan 2
OM - Oman 2
QA - Qatar 2
UY - Uruguay 2
VE - Venezuela 2
AU - Australia 1
AZ - Azerbaigian 1
BE - Belgio 1
BW - Botswana 1
CR - Costa Rica 1
CZ - Repubblica Ceca 1
DO - Repubblica Dominicana 1
ET - Etiopia 1
FK - Isole Falkland (Malvinas) 1
GF - Guiana Francese 1
GY - Guiana 1
JO - Giordania 1
KG - Kirghizistan 1
LV - Lettonia 1
MA - Marocco 1
NG - Nigeria 1
NP - Nepal 1
NZ - Nuova Zelanda 1
PE - Perù 1
PK - Pakistan 1
PY - Paraguay 1
RO - Romania 1
SA - Arabia Saudita 1
SK - Slovacchia (Repubblica Slovacca) 1
SV - El Salvador 1
TH - Thailandia 1
UZ - Uzbekistan 1
YE - Yemen 1
Totale 2.676
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Città #
Dublin 182
Dallas 158
Hong Kong 139
Ashburn 90
Beijing 84
Chandler 83
Singapore 76
Boardman 66
Los Angeles 42
Helsinki 36
Ho Chi Minh City 36
Redondo Beach 36
Munich 30
Princeton 30
Shanghai 30
Lawrence 29
Hanoi 26
Buffalo 25
New York 25
São Paulo 25
Milan 21
Turku 20
Moscow 18
Medford 16
Tokyo 16
Montreal 14
Denver 12
Mexico City 12
Warsaw 12
Nuremberg 11
Stockholm 11
Orem 10
Johannesburg 9
London 9
Detroit 8
Poplar 8
Turin 8
Atlanta 7
Bologna 7
Chicago 7
Florence 7
Pavia 7
San Francisco 7
Boston 6
Brooklyn 6
Chennai 6
Rio de Janeiro 6
Charlotte 5
The Dalles 5
Columbus 4
Da Nang 4
Dhaka 4
Düsseldorf 4
Elk Grove Village 4
Frankfurt am Main 4
Haiphong 4
Manchester 4
Phoenix 4
Porto Alegre 4
Seattle 4
Xi'an 4
Ankara 3
Baghdad 3
Belo Horizonte 3
Brasília 3
Cagliari 3
Cairo 3
Changsha 3
Curitiba 3
Genoa 3
Goiânia 3
Guarulhos 3
Guayaquil 3
Houston 3
Jakarta 3
Jundiaí 3
Lisbon 3
Ninh Bình 3
Ottawa 3
Querétaro 3
Quito 3
Quảng Ngãi 3
Rome 3
Santa Clara 3
Santo André 3
Sorocaba 3
Thái Nguyên 3
Zurich 3
Almaty 2
Annapolis 2
Augusta 2
Azzano San Paolo 2
Bari 2
Biên Hòa 2
Bra 2
Brighton 2
Bắc Giang 2
Campinas 2
Can Tho 2
Canoas 2
Totale 1.692
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Nome #
46, XY Disorders of Sexual Development: a case report and its theoretical framework 93
Loss-of-function mutation in the FLG gene is associated with a complex atopic phenotype with hyper-IgE 92
A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10 81
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q 77
SIMPSON-GOLABI-BEHMEL syndrome type 1: How placental immunohistochemistry can rapidly Predict the diagnosis 74
Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency 74
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 73
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract 72
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes 70
Mitochondrial Complex I Deficiency: Unraveling the Relevance of NDUFAF1 in Pediatric Hypertrophic Cardiomyopathy 69
A Novel Pathogenic Variant in CRB1 as the Cause of Non‐Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy 66
Early Developmental Intervention and Enriched Environment in CDKL5 Developmental and Epileptic Encephalopathy 66
Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver–Russell Syndrome and Focus on the IGF1R Gene 64
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 62
Expanding the mutational spectrum of ReNU syndrome: insights into 5’ Stem-loop variants 61
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification 61
Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency 60
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother 60
Corrigendum to “Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency” [Immunol. Lett. 214 (2019) 52–54](S0165247819302342)(10.1016/j.imlet.2019.08.003) 60
Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH) 56
Dental anomalies as a possible clue of 1p36 deletion syndrome due to germline mosaicism: A case report 54
Pulmonary Arterial Hypertension Onset in an Adult Woman With a TBX4 Likely Pathogenic Variant Following Imatinib Administration: A Case Report 51
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient 50
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature 48
Expanding the Spectrum of Autosomal Dominant ATP6V1A-Related Disease: Case Report and Literature Review 47
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques 44
Mosaic Williams syndrome: A case report 44
Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question 44
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome 42
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG) 42
De novo RANBP2 variant in a fetal demise case with cerebral intraparenchymal hemorrhage 41
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 40
A Girl with Delayed Puberty and Bumpy Lips 40
Beneficial effect of gabapentin in two children with Noonan syndrome and early-onset neuropathic pain 40
First-trimester absent nasal bone: is it a predictive factor for pathogenic CNVs in the low-risk population? 39
Genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: a comparison with Fanconi anemia 38
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development 38
Genetic and Phenotypic Features of 2 Northern Italy Families with Dowling-Degos Disease Type 4 35
Definition and prevalence of familial short stature 34
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy 34
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort 33
KIRREL3-related disorders: a case report confirming the radiological features and expanding the clinical spectrum to a less severe phenotype 32
New Tools for Congenital Hyperinsulinism 31
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy 29
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease 28
Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis 28
Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis 27
Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome 26
Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe 25
When Long-Lasting Food Selectivity Leads to an Unusual Genetic Diagnosis: A Case Report 24
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease 23
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease 23
From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature 22
Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency 22
The impact of clinical genome sequencing in a global population with suspected rare genetic disease 21
Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency 18
The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders 18
Obliterated cavum septi pellucidi: is it always a benign finding? A case report and narrative review of the literature 18
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis 15
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules 14
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder 13
Mismatch repair deficiency in multifocal gastric epithelial neoplasia and non-dysplastic glands: Harbinger of Lynch syndrome in an autoimmune gastritis patient 13
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother 13
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles 11
Totale 2.763
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Categoria #
all - tutte 14.492
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 14.492
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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
2025/20261.343 157 194 244 410 271 67 0 0 0 0 0 0
Totale 2.763