IRIS
PILUSO, Giulio
 Distribuzione geografica
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Continente #
EU - Europa 93
NA - Nord America 15
AS - Asia 8
Totale 116
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Nazione #
IT - Italia 32
DE - Germania 31
IE - Irlanda 18
US - Stati Uniti d'America 14
CZ - Repubblica Ceca 7
VN - Vietnam 5
FR - Francia 3
RU - Federazione Russa 2
CA - Canada 1
ID - Indonesia 1
IR - Iran 1
JP - Giappone 1
Totale 116
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Città #
Caserta 20
Dublin 18
Dong Ket 5
Leawood 5
Nürnberg 4
Council Bluffs 3
Napoli 3
Ashburn 2
Bremen 2
Acerra 1
Chiba 1
Genoa 1
Houston 1
Jakarta 1
Naples 1
Toronto 1
Totale 69
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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
Enhancer chip: detecting human copy number variations in regulatory elements., file dfd1c04a-d6ca-0799-e053-6605fe0a8ddb 12
Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results, file dfd1c04a-fc51-0799-e053-6605fe0a8ddb 10
Giant thrombosed intracavernous carotid artery aneurysm presenting as Tolosa–Hunt syndrome in a patient harboring a new pathogenic neurofibromatosis type 1 mutation: a case report and review of the literature., file dfd1c04a-466e-0799-e053-6605fe0a8ddb 7
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers, file dfd1c04a-ff85-0799-e053-6605fe0a8ddb 7
Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results, file dfd1c04a-4beb-0799-e053-6605fe0a8ddb 4
Therapeutic homology-independent targeted integration in retina and liver, file 7f9f1660-77f4-4a78-834c-656aa034e4cc 3
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
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients, file dfd1c04c-319b-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
Le Distrofie dei Cingoli autosomiche recessive: calpainopatie e disferlinopatie, file dfd1c04a-47a1-0799-e053-6605fe0a8ddb 1
Motor Chip: a Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders, file dfd1c04a-5417-0799-e053-6605fe0a8ddb 1
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations, file dfd1c04a-5ba9-0799-e053-6605fe0a8ddb 1
Identification of a functional estrogen-responsive enhancer element in the promoter 2 of PRDM2 gene in breast cancer cell lines, file dfd1c04a-701c-0799-e053-6605fe0a8ddb 1
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients., file dfd1c04b-8a27-0799-e053-6605fe0a8ddb 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
Solving unsolved rare neurological diseases—a Solve-RD viewpoint, file dfd1c04d-be45-0799-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 118
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Categoria #
all - tutte 593
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 593
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20207 0 0 0 1 1 0 0 1 0 4 0 0
2020/202139 0 0 0 1 7 6 9 6 4 0 0 6
2021/20229 0 0 2 3 0 1 1 1 0 1 0 0
2022/202336 1 1 0 1 8 3 1 0 19 0 2 0
2023/20244 1 0 1 0 1 0 0 0 1 0 0 0
Totale 118