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/vufind/Search/Results?lookfor=%22Palombo%2C+Flavia%22&type=Person&sort=year
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PubPharm (63)
1
Two more families supporting the existence of monogenic spinocerebellar ataxia 48
enthalten in:
Neurogenetics
| 2024
von
Palombo, F.
|
Vaisfeld, A.
|
Tropeano, V.
| +8
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2
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy
enthalten in:
American journal of human genetics
| 2024
von
Brugger, M.
|
Lauri, A.
|
Zhen, Y.
| +37
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3
AFG3L2 and ACO2-Linked Dominant Optic Atrophy : Genotype-Phenotype Characterization Compared to OPA1 Patients
enthalten in:
American journal of ophthalmology
| 2024
von
Amore, G.
|
Romagnoli, M.
|
Carbonelli, M.
| +15
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4
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy
enthalten in:
Journal of medical genetics
| 2023
von
Fiorini, C.
|
Degiorgi, A.
|
Cascavilla, M.
| +12
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5
Progressive Ataxia and Palatal Tremor Is Not Associated with IgLON5 Antibodies : Results From Two Cases
enthalten in:
Cerebellum (London, England)
| 2023
von
Mastrangelo, A.
|
Giannoccaro, M.
|
Donadio, V.
| +5
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6
Expanding the Clinical Spectrum of UBTF-Related Neurodevelopmental Disorder
enthalten in:
Neurology. Genetics
| 2023
von
Pietra, A.
|
Palombo, F.
|
Giannotta, M.
| +8
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7
Monoallelic
de novo
variants in
DDX17
cause a novel neurodevelopmental disorder
enthalten in:
bioRxiv.org
| 2023
von
Seaby, E.
|
Godwin, A.
|
Clerc, V.
| +42
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8
The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10
enthalten in:
Brain : a journal of neurology
| 2023
von
Fiorini, C.
|
Ormanbekova, D.
|
Palombo, F.
| +17
CommentOn: Brain. 2023 Feb 13;146(2):455-460. - PMID 36317462
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9
The Genetic Puzzle of a SOD1-Patient with Ocular Ptosis and a Motor Neuron Disease: How Many Variants Contribute to the Phenotype?
enthalten in:
Preprints.org
| 2023
von
Vacchiano, V.
|
Palombo, F.
|
Ormanbekova, D.
| +8
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10
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup
enthalten in:
Haematologica
| 2023
von
Marconi, C.
|
Pecci, A.
|
Palombo, F.
| +13
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American journal of hematology
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American Journal of Medical Genetics Part C: Se...
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American journal of ophthalmology
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35
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20
Research Support, Non-U.S. Gov't
7
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5
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4
Aging
4
Alzheimer’s disease
4
CLOCK genes
4
Centenarians
4
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4
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3
CDH23
3
DNA, Mitochondrial
3
In silico
3
Oman
3
d2484a
2
Core Binding Factor Alpha 2 Subunit
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2
EC 2.7.7.7
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Erscheinungszeitraum
39
2020-
24
2010-2019
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59
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