IRIS
TREVISAN, LUCIA
 Distribuzione geografica
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Continente #
EU - Europa 704
Totale 704
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Nazione #
IT - Italia 704
Totale 704
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Città #
Genova 386
Genoa 169
Rapallo 145
Bordighera 4
Totale 704
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Nome #
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy 107
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. 102
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" 94
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? 89
Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients. 87
EARLY ONSET DEMYELINATING CHARCOT‐MARIE‐TOOTH DISEASE CAUSED BY A NOVEL IN‐FRAME ISOLEUCINE DELETION IN PERIPHERAL MYELIN PROTEIN 2 55
Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years 53
null 35
597P Endometrial carcinoma and mismatch repair deficiency: Clinical association and universal screening for Lynch syndrome 28
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia 19
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? 17
The Advantages of NGS Molecular Classification in Endometrial Cancer Diagnosis 16
A case of Huntington disease-like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era 10
An eleven-year history of Vanishing White Matter Disease in an adult patient with no cognitive decline and EIF2B5 mutations. A case report 9
The Advantages of Next-Generation Sequencing Molecular Classification in Endometrial Cancer Diagnosis 9
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement 5
Case report: Episodic ataxia without ataxia? 3
The unexpected finding of CNS autoantibodies in GBA1 mutation carriers with atypical parkinsonism 3
Neural oscillations modulation during working memory in pre-manifest and early Huntington’s disease 1
Totale 742
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Categoria #
all - tutte 2.795
article - articoli 2.795
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 5.590
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201917 0 0 0 0 0 0 0 0 0 2 5 10
2019/2020177 9 2 2 8 17 22 21 12 25 31 22 6
2020/2021106 9 6 4 13 31 3 3 9 4 11 3 10
2021/2022108 3 3 3 5 7 8 8 20 9 15 11 16
2022/2023164 10 19 1 15 28 23 0 11 24 2 29 2
2023/2024167 17 12 6 25 9 45 14 11 11 17 0 0
Totale 742