IRIS
RANIERI, CARLOTTA
 Distribuzione geografica
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Continente #
NA - Nord America 327
EU - Europa 102
AS - Asia 14
SA - Sud America 2
Totale 445
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Nazione #
US - Stati Uniti d'America 327
SE - Svezia 41
IT - Italia 28
CN - Cina 7
CZ - Repubblica Ceca 6
DE - Germania 6
FR - Francia 6
GB - Regno Unito 4
FI - Finlandia 3
BE - Belgio 2
IN - India 2
RU - Federazione Russa 2
SG - Singapore 2
SI - Slovenia 2
VN - Vietnam 2
BR - Brasile 1
CL - Cile 1
ES - Italia 1
IR - Iran 1
RO - Romania 1
Totale 445
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Città #
Chandler 56
Fairfield 37
Nyköping 36
Ashburn 26
Seattle 20
Wilmington 17
Woodbridge 15
Ann Arbor 12
Cambridge 12
Bari 11
Houston 11
Lawrence 11
Roxbury 11
New York 10
Des Moines 7
Brno 6
Inglewood 6
Bisceglie 4
Valenzano 4
Beijing 3
Helsinki 3
Munich 3
Brussels 2
Dong Ket 2
Grottaglie 2
Ljubljana 2
London 2
Nanjing 2
Paris 2
Pune 2
Altopascio 1
Ardabil 1
Esslingen am Neckar 1
La Canada Flintridge 1
Leawood 1
Madrid 1
Marseille 1
Napoli 1
Redwood City 1
San Diego 1
Santa Marinella 1
Serra 1
Singapore 1
Sioux Falls 1
Stimigliano 1
São Paulo 1
Tianjin 1
Wuxi 1
Totale 355
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Nome #
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay 75
First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma 58
Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers 57
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 56
The first case of congenital myasthenic syndrome caused by a large homozygous deletion in the cterminal region of colq (Collagen like tail subunit of asymmetric acetylcholinesterase) protein 54
Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects 33
Importance of clinical suspicion and multidisciplinary management for early diagnosis of a cardiac laminopathy patient: A case report 33
A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth 32
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 29
Correspondence on “Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities,” by Carmignac et al 28
Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome 23
Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: another piece added to the puzzle of mosaic RASopathies 6
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros) 1
Totale 485
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Categoria #
all - tutte 3.484
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 3.484
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202055 4 2 3 6 6 4 6 6 6 7 2 3
2020/202189 0 5 0 5 13 0 21 10 11 10 8 6
2021/202297 11 7 2 1 2 8 4 5 10 10 23 14
2022/2023167 17 34 8 6 12 17 2 22 38 5 4 2
2023/202464 3 12 2 8 10 19 0 4 1 1 0 4
2024/202511 11 0 0 0 0 0 0 0 0 0 0 0
Totale 485