Prenatal Diagnosis of Fryns Syndrome through Identification of Two Novel Splice Variants in the PIGN Gene—A Case Series.
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| Title: | Prenatal Diagnosis of Fryns Syndrome through Identification of Two Novel Splice Variants in the PIGN Gene—A Case Series. |
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| Authors: | Marchetto, Aruna1 (AUTHOR) shoukier@praenatal-medizin.de, Leidescher, Susanne1 (AUTHOR), van Hoi, Theresia1 (AUTHOR), Hirschberger, Niklas1 (AUTHOR), Vogel, Florian1 (AUTHOR), Köhler, Siegmund2 (AUTHOR) siegmund.koehler@med.uni-marburg.de, Bedei, Ivonne Alexandra3 (AUTHOR), Axt-Fliedner, Roland3 (AUTHOR), Shoukier, Moneef1 (AUTHOR), Keil, Corinna2 (AUTHOR) corinna.keil@med.uni-marburg.de |
| Source: | Life (2075-1729). May2024, Vol. 14 Issue 5, p628. 11p. |
| 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: 177496828 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Prenatal Diagnosis of Fryns Syndrome through Identification of Two Novel Splice Variants in the PIGN Gene—A Case Series. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Marchetto%2C+Aruna%22">Marchetto, Aruna</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> shoukier@praenatal-medizin.de</i><br /><searchLink fieldCode="AR" term="%22Leidescher%2C+Susanne%22">Leidescher, Susanne</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22van+Hoi%2C+Theresia%22">van Hoi, Theresia</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Hirschberger%2C+Niklas%22">Hirschberger, Niklas</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Vogel%2C+Florian%22">Vogel, Florian</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Köhler%2C+Siegmund%22">Köhler, Siegmund</searchLink><relatesTo>2</relatesTo> (AUTHOR)<i> siegmund.koehler@med.uni-marburg.de</i><br /><searchLink fieldCode="AR" term="%22Bedei%2C+Ivonne+Alexandra%22">Bedei, Ivonne Alexandra</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Axt-Fliedner%2C+Roland%22">Axt-Fliedner, Roland</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Shoukier%2C+Moneef%22">Shoukier, Moneef</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Keil%2C+Corinna%22">Keil, Corinna</searchLink><relatesTo>2</relatesTo> (AUTHOR)<i> corinna.keil@med.uni-marburg.de</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Life+%282075-1729%29%22">Life (2075-1729)</searchLink>. May2024, Vol. 14 Issue 5, p628. 11p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=177496828 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3390/life14050628 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 11 StartPage: 628 Titles: – TitleFull: Prenatal Diagnosis of Fryns Syndrome through Identification of Two Novel Splice Variants in the PIGN Gene—A Case Series. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Marchetto, Aruna – PersonEntity: Name: NameFull: Leidescher, Susanne – PersonEntity: Name: NameFull: van Hoi, Theresia – PersonEntity: Name: NameFull: Hirschberger, Niklas – PersonEntity: Name: NameFull: Vogel, Florian – PersonEntity: Name: NameFull: Köhler, Siegmund – PersonEntity: Name: NameFull: Bedei, Ivonne Alexandra – PersonEntity: Name: NameFull: Axt-Fliedner, Roland – PersonEntity: Name: NameFull: Shoukier, Moneef – PersonEntity: Name: NameFull: Keil, Corinna IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 05 Text: May2024 Type: published Y: 2024 Identifiers: – Type: issn-print Value: 20751729 Numbering: – Type: volume Value: 14 – Type: issue Value: 5 Titles: – TitleFull: Life (2075-1729) Type: main |
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