Variant Resolution Through RNA Testing and Affected Tissue Analysis in the Neurofibromatoses: A Case Series.
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| Title: | Variant Resolution Through RNA Testing and Affected Tissue Analysis in the Neurofibromatoses: A Case Series. |
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| Authors: | Schatz KS; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD., Applegate CD; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD., Belzberg AJ; Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, MD., Chen Y; Department of Genetics, The University of Alabama at Birmingham, Alabama., Romo CG; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD; and., Slobogean B; Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, MD., Blakeley J; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD; and., Dimachkie MM; Department of Neurology, University of Kansas Medical Center, Kansas City, KS. |
| Source: | Neurology. Genetics [Neurol Genet] 2026 Feb 02; Vol. 12 (1), pp. e200347. Date of Electronic Publication: 2026 Feb 02 (Print Publication: 2026). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41630929 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Variant Resolution Through RNA Testing and Affected Tissue Analysis in the Neurofibromatoses: A Case Series. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Schatz+KS%22">Schatz KS</searchLink>; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD.<br /><searchLink fieldCode="AU" term="%22Applegate+CD%22">Applegate CD</searchLink>; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD.<br /><searchLink fieldCode="AU" term="%22Belzberg+AJ%22">Belzberg AJ</searchLink>; Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, MD.<br /><searchLink fieldCode="AU" term="%22Chen+Y%22">Chen Y</searchLink>; Department of Genetics, The University of Alabama at Birmingham, Alabama.<br /><searchLink fieldCode="AU" term="%22Romo+CG%22">Romo CG</searchLink>; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD; and.<br /><searchLink fieldCode="AU" term="%22Slobogean+B%22">Slobogean B</searchLink>; Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, MD.<br /><searchLink fieldCode="AU" term="%22Blakeley+J%22">Blakeley J</searchLink>; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD; and.<br /><searchLink fieldCode="AU" term="%22Dimachkie+MM%22">Dimachkie MM</searchLink>; Department of Neurology, University of Kansas Medical Center, Kansas City, KS. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101671068%22">Neurology. Genetics</searchLink> [Neurol Genet] 2026 Feb 02; Vol. 12 (1), pp. e200347. <i>Date of Electronic Publication: </i>2026 Feb 02 (<i>Print Publication: </i>2026). – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Published+for+the+American+Academy+of+Neurology+by+Wolters+Kluwer%22">Published for the American Academy of Neurology by Wolters Kluwer </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101671068 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>2376-7839 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2223767839%22">23767839 </searchLink><i>NLM ISO Abbreviation: </i>Neurol Genet <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41630929 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1212/NXG.0000000000200347 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: e200347 Titles: – TitleFull: Variant Resolution Through RNA Testing and Affected Tissue Analysis in the Neurofibromatoses: A Case Series. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Schatz KS – PersonEntity: Name: NameFull: Applegate CD – PersonEntity: Name: NameFull: Belzberg AJ – PersonEntity: Name: NameFull: Chen Y – PersonEntity: Name: NameFull: Romo CG – PersonEntity: Name: NameFull: Slobogean B – PersonEntity: Name: NameFull: Blakeley J – PersonEntity: Name: NameFull: Dimachkie MM IsPartOfRelationships: – BibEntity: Dates: – D: 02 M: 02 Text: 2026 Feb 02 Type: published Y: 2026 Identifiers: – Type: issn-print Value: 2376-7839 Numbering: – Type: volume Value: 12 – Type: issue Value: 1 Titles: – TitleFull: Neurology. Genetics Type: main |
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