IRIS
SIRCHIA, FABIO
 Distribuzione geografica
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Continente #
NA - Nord America 284
EU - Europa 251
AS - Asia 53
OC - Oceania 2
SA - Sud America 2
Totale 592
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Nazione #
US - Stati Uniti d'America 283
IE - Irlanda 180
CN - Cina 48
FI - Finlandia 32
IT - Italia 20
DE - Germania 8
CH - Svizzera 4
GB - Regno Unito 4
JP - Giappone 2
SE - Svezia 2
AU - Australia 1
BR - Brasile 1
CA - Canada 1
FK - Isole Falkland (Malvinas) 1
FR - Francia 1
ID - Indonesia 1
IR - Iran 1
NZ - Nuova Zelanda 1
TR - Turchia 1
Totale 592
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Città #
Dublin 180
Chandler 83
Helsinki 32
Princeton 30
Lawrence 29
Shanghai 29
Boardman 25
Medford 16
Ashburn 12
New York 7
Milan 3
Pavia 3
San Francisco 3
Zurich 3
Azzano San Paolo 2
Beijing 2
Brighton 2
Eskilstuna 2
Menlo Park 2
Seattle 2
Tokyo 2
Auckland 1
Campi Bisenzio 1
Chicago 1
Foshan 1
Fushun 1
Hangzhou 1
Houston 1
Jakarta 1
Kish 1
Lausanne 1
Leawood 1
Melbourne 1
Nanjing 1
Oklahoma City 1
Pisa 1
Piscataway 1
Toronto 1
Wuxi 1
Xiangtan 1
Xinyi 1
Yiwu 1
Totale 490
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Nome #
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification 34
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q 33
A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10 31
Dental anomalies as a possible clue of 1p36 deletion syndrome due to germline mosaicism: A case report 29
SIMPSON-GOLABI-BEHMEL syndrome type 1: How placental immunohistochemistry can rapidly Predict the diagnosis 27
Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question 27
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 27
46, XY Disorders of Sexual Development: a case report and its theoretical framework 25
Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency 25
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes 23
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient 23
Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH) 21
Corrigendum to “Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency” [Immunol. Lett. 214 (2019) 52–54](S0165247819302342)(10.1016/j.imlet.2019.08.003) 20
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 19
A Girl with Delayed Puberty and Bumpy Lips 19
First-trimester absent nasal bone: is it a predictive factor for pathogenic CNVs in the low-risk population? 19
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development 19
Genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: a comparison with Fanconi anemia 17
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG) 15
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother 14
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort 14
Beneficial effect of gabapentin in two children with Noonan syndrome and early-onset neuropathic pain 14
Early Developmental Intervention and Enriched Environment in CDKL5 Developmental and Epileptic Encephalopathy 13
New Tools for Congenital Hyperinsulinism 13
Definition and prevalence of familial short stature 12
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy 12
Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis 12
Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis 11
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease 9
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 9
Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome 9
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract 8
Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency 8
Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe 8
When Long-Lasting Food Selectivity Leads to an Unusual Genetic Diagnosis: A Case Report 8
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy 8
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease 3
De novo RANBP2 variant in a fetal demise case with cerebral intraparenchymal hemorrhage 3
KIRREL3-related disorders: a case report confirming the radiological features and expanding the clinical spectrum to a less severe phenotype 2
The impact of clinical genome sequencing in a global population with suspected rare genetic disease 2
Mosaic Williams syndrome: A case report 1
Totale 646
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Categoria #
all - tutte 4.672
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 4.672
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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
2024/20252 2 0 0 0 0 0 0 0 0 0 0 0
Totale 646