IRIS
SANTORO, Claudia
 Distribuzione geografica
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Continente #
EU - Europa 71
NA - Nord America 11
AS - Asia 4
AF - Africa 1
Totale 87
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Nazione #
DE - Germania 30
IT - Italia 18
IE - Irlanda 10
US - Stati Uniti d'America 10
CZ - Repubblica Ceca 5
FR - Francia 3
RU - Federazione Russa 2
VN - Vietnam 2
CA - Canada 1
DK - Danimarca 1
EG - Egitto 1
GB - Regno Unito 1
JP - Giappone 1
RO - Romania 1
TH - Thailandia 1
Totale 87
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Città #
Dublin 10
Caserta 8
Leawood 5
Napoli 4
Nürnberg 4
Dong Ket 2
Naples 2
Bangkok 1
Boardman 1
Boston 1
Bremen 1
Frederiksberg 1
Genoa 1
Hamadate 1
Houston 1
London 1
Milan 1
Portland 1
Rome 1
Toronto 1
Verona 1
Zagazig 1
Totale 50
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Nome #
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1, file dfd1c04c-166f-0799-e053-6605fe0a8ddb 54
Natural History of Scoliosis in Children with NF1: An Observation Study, file dfd1c04d-acbd-0799-e053-6605fe0a8ddb 9
Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: Case report, file dfd1c04b-7df0-0799-e053-6605fe0a8ddb 7
Early-onset central diabetes insipidus is associated with de novo arginine vasopressin-neurophysin II or Wolfram syndrome 1 gene mutations, file dfd1c04b-4b23-0799-e053-6605fe0a8ddb 4
Multiple spinal nerve enlargement and SOS1 mutation: further evidence of overlap between Neurofibromatosis type 1 and Noonan phenotype, file dfd1c04b-82db-0799-e053-6605fe0a8ddb 3
From Gardner fibroma diagnosis to constitutional APC mutation detection: a one-way street., file dfd1c04b-e044-0799-e053-6605fe0a8ddb 3
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype, file 21377111-4913-433e-a41d-3884c7e78669 2
Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1, file dfd1c04a-a821-0799-e053-6605fe0a8ddb 2
Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience, file dfd1c04b-7fe0-0799-e053-6605fe0a8ddb 2
Neuropsychiatric Manifestations, Reduced Self-Esteem and Poor Quality of Life in Children and Adolescents with Neurofibromatosis Type 1 (NF1): The Impact of Symptom Visibility and Bullying Behavior, file 5f22a870-4727-4bd8-adc1-f9c5a8448514 1
Seizures in children with neurofibromatosis type 1: Is neurofibromatosis type 1 enough?, file dfd1c04c-0f1b-0799-e053-6605fe0a8ddb 1
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis, file dfd1c04c-5f57-0799-e053-6605fe0a8ddb 1
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings, file dfd1c04d-be9f-0799-e053-6605fe0a8ddb 1
Totale 90
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Categoria #
all - tutte 481
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 481
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20204 0 0 1 1 1 0 0 1 0 0 0 0
2020/202135 0 0 0 0 7 6 9 6 4 0 0 3
2021/20228 0 0 2 3 0 1 1 0 0 1 0 0
2022/202332 1 1 0 1 5 2 3 5 13 1 0 0
Totale 90