Unexpected genomic architecture in a sporadic case of C1-INH Hereditary Angioedema: the hidden heritability.
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| Title: | Unexpected genomic architecture in a sporadic case of C1-INH Hereditary Angioedema: the hidden heritability. |
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| Authors: | Marchionni, Enrica1 (AUTHOR) enrica.marchionni@ptvonline.it, Mannucci, Liliana1 (AUTHOR), Di Tommaso, Silvia2 (AUTHOR), Nardone, Anna Maria1 (AUTHOR), Albanese, Maria3,4 (AUTHOR), Novelli, Antonio2 (AUTHOR), Sangiuolo, Federica Carla1,5 (AUTHOR), Triggianese, Paola5,6 (AUTHOR), Novelli, Giuseppe1,5 (AUTHOR) |
| Source: | Orphanet Journal of Rare Diseases. 11/5/2025, Vol. 20 Issue 1, p1-6. 6p. |
| Database: | Academic Search Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 189169282 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Unexpected genomic architecture in a sporadic case of C1-INH Hereditary Angioedema: the hidden heritability. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Marchionni%2C+Enrica%22">Marchionni, Enrica</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> enrica.marchionni@ptvonline.it</i><br /><searchLink fieldCode="AR" term="%22Mannucci%2C+Liliana%22">Mannucci, Liliana</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Di+Tommaso%2C+Silvia%22">Di Tommaso, Silvia</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Nardone%2C+Anna+Maria%22">Nardone, Anna Maria</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Albanese%2C+Maria%22">Albanese, Maria</searchLink><relatesTo>3,4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Novelli%2C+Antonio%22">Novelli, Antonio</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Sangiuolo%2C+Federica+Carla%22">Sangiuolo, Federica Carla</searchLink><relatesTo>1,5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Triggianese%2C+Paola%22">Triggianese, Paola</searchLink><relatesTo>5,6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Novelli%2C+Giuseppe%22">Novelli, Giuseppe</searchLink><relatesTo>1,5</relatesTo> (AUTHOR) – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Orphanet+Journal+of+Rare+Diseases%22">Orphanet Journal of Rare Diseases</searchLink>. 11/5/2025, Vol. 20 Issue 1, p1-6. 6p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=189169282 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13023-025-04092-6 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 6 StartPage: 1 Titles: – TitleFull: Unexpected genomic architecture in a sporadic case of C1-INH Hereditary Angioedema: the hidden heritability. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Marchionni, Enrica – PersonEntity: Name: NameFull: Mannucci, Liliana – PersonEntity: Name: NameFull: Di Tommaso, Silvia – PersonEntity: Name: NameFull: Nardone, Anna Maria – PersonEntity: Name: NameFull: Albanese, Maria – PersonEntity: Name: NameFull: Novelli, Antonio – PersonEntity: Name: NameFull: Sangiuolo, Federica Carla – PersonEntity: Name: NameFull: Triggianese, Paola – PersonEntity: Name: NameFull: Novelli, Giuseppe IsPartOfRelationships: – BibEntity: Dates: – D: 05 M: 11 Text: 11/5/2025 Type: published Y: 2025 Identifiers: – Type: issn-print Value: 17501172 Numbering: – Type: volume Value: 20 – Type: issue Value: 1 Titles: – TitleFull: Orphanet Journal of Rare Diseases Type: main |
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