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/vufind/Search/Results?lookfor=%22Fogli%2C+Antonella%22&type=Person&sort=year
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PubPharm (23)
1
Temperature-Sensitive Auditory Neuropathy : Report of a Novel Variant of OTOF Gene and Review of Current Literature
enthalten in:
Medicina (Kaunas, Lithuania)
| 2023
von
Forli, F.
|
Capobianco, S.
|
Berrettini, S.
| +5
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2
Case report : Early-onset osteoporosis in a patient carrying a novel heterozygous variant of the WNT1 gene
enthalten in:
Frontiers in endocrinology
| 2022
von
Campopiano, M.
|
Fogli, A.
|
Michelucci, A.
| +10
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3
Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation
enthalten in:
Molecular syndromology
| 2017
von
Bertini, V.
|
Fogli, A.
|
Bruno, R.
| +5
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4
Amyotrophic lateral sclerosis with long lasting disease course and SOD1 and TARDBP mutations : Report of two cases and overview of the literature
enthalten in:
Amyotrophic lateral sclerosis & frontotemporal degeneration
| 2017
von
Lucchesi, C.
|
Caldarazzo Ienco, E.
|
Fabbrini, M.
| +4
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5
Identification of BRAF 3'UTR Isoforms in Melanoma
enthalten in:
The Journal of investigative dermatology
| 2015
von
Marranci, A.
|
Tuccoli, A.
|
Vitiello, M.
| +13
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6
Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests : A Case of DiGeorge-Like Syndrome?
enthalten in:
Case reports in pediatrics
| 2015
von
Laccetta, G.
|
Toschi, B.
|
Fogli, A.
| +3
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7
Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany
enthalten in:
Clinical neurology and neurosurgery
| 2014
von
Orsucci, D.
|
Petrucci, L.
|
Ienco, E.
| +12
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8
Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany
enthalten in:
Clinical neurology and neurosurgery
| 2014
von
Orsucci, D.
|
Petrucci, L.
|
Ienco, E.
| +12
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9
Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion
enthalten in:
Case reports in neurological medicine
| 2014
von
Tremolizzo, L.
|
Sala, G.
|
Conti, E.
| +8
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10
Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome
enthalten in:
International journal of pediatric otorhinolaryngology
| 2010
von
Michelucci, A.
|
Ghirri, P.
|
Iacopetti, P.
| +10
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Prenatal diagnosis
2
Clinical neurology and neurosurgery
2
Human genetics
2
Journal of cutaneous medicine and surgery
1
Amyotrophic lateral sclerosis & frontotemporal ...
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Annals of neurology
1
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Medicina (Kaunas, Lithuania)
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Oncogene
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The Journal of investigative dermatology
1
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14
Journal Article
5
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3
Adenosine Triphosphatases
3
EC 3.6.1.-
3
EC 3.6.4.3
3
EC 5.6.1.1
3
SPAST protein, human
3
Spastin
2
Codon
2
DNA-Binding Proteins
2
Nucleotides
2
Research Support, Non-U.S. Gov't
1
10T9CSU89I
1
127120-53-0
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4SMD
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Apoptosis Regulatory Proteins
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Array CGH
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1900-1999
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