about
Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndromeA large de novo 9p21.3 deletion in a girl affected by astrocytoma and multiple melanomaMirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.Identification of a gene expression driven progression pathway in myxoid liposarcoma.iPS cells to model CDKL5-related disorders.Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardationWhole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancerCharacterization of a rare variant (c.2635-2A>G) of the MSH2 gene in a family with Lynch syndrome.Periventricular heterotopia with white matter abnormalities associated with 6p25 deletionp53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma
P50
Q28237432-C7F0225F-A4A2-49B8-BD44-BC518B79365DQ28386783-843E289C-95CB-48E4-9274-1E914960DAF0Q34212342-570AD02D-0834-490D-950A-D4D702902BBFQ34227540-E13B45E8-B427-49BA-8A83-B23FD2403DF1Q35555588-827C8E1E-7702-4EF5-9DAF-7524B928E03EQ36060920-8E7575FA-7DDB-4AB2-8D1F-3A8992AF27E5Q36980711-8B864BBE-B518-4442-BB51-73884F31060BQ52565850-A16BF7E2-8E93-4B09-9551-25A338979BEEQ58451563-D9EC8022-0734-41EB-8E25-DB8083A81D3BQ59330949-B5BFDF6D-5E5B-42E1-BE8F-C85AA2854514
P50
description
Forscher
@de
chercheur
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investigador
@es
onderzoeker
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researcher
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հետազոտող
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研究者
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name
Vittoria Disciglio
@ast
Vittoria Disciglio
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Vittoria Disciglio
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Vittoria Disciglio
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type
label
Vittoria Disciglio
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Vittoria Disciglio
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Vittoria Disciglio
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Vittoria Disciglio
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prefLabel
Vittoria Disciglio
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Vittoria Disciglio
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Vittoria Disciglio
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Vittoria Disciglio
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P1053
K-3376-2018
P106
P31
P496
0000-0002-3518-9224