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/vufind/Search/Results?lookfor=%22Piceci+Sparascio%2C+Francesca%22&type=Person&sort=year
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PubPharm (16)
1
A novel ANO3 variant in two siblings with different phenotypes
enthalten in:
Parkinsonism & related disorders
| 2023
von
Esposito, M.
|
Trinchillo, A.
|
Piceci-Sparascio, F.
| +3
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2
FOXI3 pathogenic variants cause one form of craniofacial microsomia
enthalten in:
Nature communications
| 2023
von
Mao, K.
|
Borel, C.
|
Ansar, M.
| +51
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3
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome
enthalten in:
European journal of human genetics : EJHG
| 2023
von
Piceci-Sparascio, F.
|
Micale, L.
|
Torres, B.
| +26
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4
Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia
enthalten in:
American journal of human genetics
| 2022
von
Iturrate, A.
|
Rivera-Barahona, A.
|
Flores, C.
| +16
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5
Cardiac Defects and Genetic Syndromes : Old Uncertainties and New Insights
enthalten in:
Genes
| 2021
von
Calcagni, G.
|
Pugnaloni, F.
|
Digilio, M.
| +10
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6
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)
enthalten in:
International journal of molecular sciences
| 2021
von
Guida, V.
|
Calzari, L.
|
Fadda, M.
| +20
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7
Common atrium/atrioventricular canal defect and postaxial polydactyly : A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene
enthalten in:
Human mutation
| 2020
von
Piceci-Sparascio, F.
|
Palencia-Campos, A.
|
Soto-Bielicka, P.
| +14
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8
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome
enthalten in:
American journal of human genetics
| 2020
von
Palencia-Campos, A.
|
Aoto, P.
|
Machal, E.
| +39
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9
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum
enthalten in:
American journal of human genetics
| 2020
von
Motta, M.
|
Pannone, L.
|
Pantaleoni, F.
| +47
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10
Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance
enthalten in:
Molecular genetics & genomic medicine
| 2020
von
Traversa, A.
|
Marchionni, E.
|
Giovannetti, A.
| +14
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Hedgehog Proteins
3
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2
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2
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2
hedgehog signaling
2
oculo-auriculo-vertebral spectrum
2
postaxial polydactyly
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17q12 duplication syndrome
1
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ANO3 protein, human
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1
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1
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1
Atrioventricular septal defect
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