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/vufind/Search/Results?lookfor=%22Marchionni%2C+Enrica%22&type=Person&sort=year
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PubPharm (35)
1
Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies : systematic review and meta-analysis
enthalten in:
European journal of human genetics : EJHG
| 2024
von
Marchionni, E.
|
Guadagnolo, D.
|
Mastromoro, G.
| +1
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2
Clinical and functional characterization of COL2A1 p.Gly444Ser variant : From a fetal phenotype to a previously undisclosed postnatal phenotype
enthalten in:
Bone reports
| 2023
von
Marchionni, E.
|
D'Apice, M.
|
Lupo, V.
| +15
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3
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family : Towards the Definition of a Critical Region
enthalten in:
Genes
| 2023
von
Guadagnolo, D.
|
Mastromoro, G.
|
Torres, B.
| +7
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4
Variable Intrafamilial Expression of ABCB4 Disease
enthalten in:
ACG case reports journal
| 2023
von
Zampaglione, L.
|
Rougemont, A.
|
Rubbia-Brandt, L.
| +5
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5
Huntington's Disease with Small CAG Repeat Expansions
enthalten in:
Movement disorders : official journal of the Movement Disorder Society
| 2023
von
Heinzmann, A.
|
Sayah, S.
|
Lejeune, F.
| +8
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6
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility
enthalten in:
Biomedicines
| 2023
von
Guadagnolo, D.
|
Mastromoro, G.
|
Marchionni, E.
| +8
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7
Mosaic genome-wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells
enthalten in:
American journal of medical genetics. Part A
| 2023
von
Mastromoro, G.
|
Guadagnolo, D.
|
Marchionni, E.
| +7
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8
DSP-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort
enthalten in:
International journal of molecular sciences
| 2023
von
Di Lorenzo, F.
|
Marchionni, E.
|
Ferradini, V.
| +11
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9
Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2023
von
Mastromoro, G.
|
Guadagnolo, D.
|
Marchionni, E.
| +7
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10
Huntington's Disease with Small CAG Repeat Expansions
enthalten in:
Movement Disorders
| 2023
von
Heinzmann, A.
|
Sayah, S.
|
Lejeune, F.
| +8
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prenatal diagnosis
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exome sequencing
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- XLRP- Coats’-like retinitis
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33CM23913M
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Erscheinungszeitraum
28
2020-
7
2010-2019
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