Genetic mosaicism – importance of clinical features to improve diagnosis.
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| Title: | Genetic mosaicism – importance of clinical features to improve diagnosis. |
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| Authors: | Daschkey, Svenja1 (AUTHOR) Svenja.daschkey@med.uni-duesseldorf.de, Dietzel-Dahmen, Jutta1 (AUTHOR) Jutta.Dietzel-Dahmen@med.uni-duesseldorf.de, Drechsler, Matthias1 (AUTHOR) Matthias-Harald.Drechsler@med.uni-duesseldorf.de, Sivalingam, Sugirthan1 (AUTHOR) Sugirtahn.Sivalingam@med.uni-duesseldorf.de, Schaper, Jörg2 (AUTHOR) Schaper@med.uni-duesseldorf.de, Naujoks, Monica3 (AUTHOR) mail@kiz-duesseldorf.de, Welters, Alena2,4 (AUTHOR) Alena.Welters@med.uni-duesseldorf.de, Redler, Silke1 (AUTHOR) Silke.Redler@med.uni-duesseldorf.de, Wieczorek, Dagmar1,2 (AUTHOR) Dagmar.Wieczorek@med.uni-duesseldorf.de |
| Source: | Journal of Rare Diseases. 2/23/2026, Vol. 5 Issue 1, p1-11. 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: 191807974 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Genetic mosaicism – importance of clinical features to improve diagnosis. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Daschkey%2C+Svenja%22">Daschkey, Svenja</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> Svenja.daschkey@med.uni-duesseldorf.de</i><br /><searchLink fieldCode="AR" term="%22Dietzel-Dahmen%2C+Jutta%22">Dietzel-Dahmen, Jutta</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> Jutta.Dietzel-Dahmen@med.uni-duesseldorf.de</i><br /><searchLink fieldCode="AR" term="%22Drechsler%2C+Matthias%22">Drechsler, Matthias</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> Matthias-Harald.Drechsler@med.uni-duesseldorf.de</i><br /><searchLink fieldCode="AR" term="%22Sivalingam%2C+Sugirthan%22">Sivalingam, Sugirthan</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> Sugirtahn.Sivalingam@med.uni-duesseldorf.de</i><br /><searchLink fieldCode="AR" term="%22Schaper%2C+Jörg%22">Schaper, Jörg</searchLink><relatesTo>2</relatesTo> (AUTHOR)<i> Schaper@med.uni-duesseldorf.de</i><br /><searchLink fieldCode="AR" term="%22Naujoks%2C+Monica%22">Naujoks, Monica</searchLink><relatesTo>3</relatesTo> (AUTHOR)<i> mail@kiz-duesseldorf.de</i><br /><searchLink fieldCode="AR" term="%22Welters%2C+Alena%22">Welters, Alena</searchLink><relatesTo>2,4</relatesTo> (AUTHOR)<i> Alena.Welters@med.uni-duesseldorf.de</i><br /><searchLink fieldCode="AR" term="%22Redler%2C+Silke%22">Redler, Silke</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> Silke.Redler@med.uni-duesseldorf.de</i><br /><searchLink fieldCode="AR" term="%22Wieczorek%2C+Dagmar%22">Wieczorek, Dagmar</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<i> Dagmar.Wieczorek@med.uni-duesseldorf.de</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Journal+of+Rare+Diseases%22">Journal of Rare Diseases</searchLink>. 2/23/2026, Vol. 5 Issue 1, p1-11. 11p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=191807974 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s44162-026-00164-8 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 11 StartPage: 1 Titles: – TitleFull: Genetic mosaicism – importance of clinical features to improve diagnosis. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Daschkey, Svenja – PersonEntity: Name: NameFull: Dietzel-Dahmen, Jutta – PersonEntity: Name: NameFull: Drechsler, Matthias – PersonEntity: Name: NameFull: Sivalingam, Sugirthan – PersonEntity: Name: NameFull: Schaper, Jörg – PersonEntity: Name: NameFull: Naujoks, Monica – PersonEntity: Name: NameFull: Welters, Alena – PersonEntity: Name: NameFull: Redler, Silke – PersonEntity: Name: NameFull: Wieczorek, Dagmar IsPartOfRelationships: – BibEntity: Dates: – D: 23 M: 02 Text: 2/23/2026 Type: published Y: 2026 Identifiers: – Type: issn-print Value: 2731085X Numbering: – Type: volume Value: 5 – Type: issue Value: 1 Titles: – TitleFull: Journal of Rare Diseases Type: main |
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