Marked intrafamilial variability of clinical and neuroimaging manifestations in NFIB-related developmental disorder.
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| Title: | Marked intrafamilial variability of clinical and neuroimaging manifestations in NFIB-related developmental disorder. |
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| Authors: | Gana S; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy., Serpieri V; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy., Giorgio E; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Iorio M; Department of Brain and Behavioual Sciences, University of Pavia, Pavia, Italy., Rognone E; Advanced Imaging and Radiomics Center, Neuroradiology Department, IRCCS Mondino Foundation, Pavia, Italy., Pichiecchio A; Department of Brain and Behavioual Sciences, University of Pavia, Pavia, Italy.; Advanced Imaging and Radiomics Center, Neuroradiology Department, IRCCS Mondino Foundation, Pavia, Italy., Chiappedi M; Child Neurology and Psychiatry Unit, ASST Pavia, Vigevano, Italy., Valente EM; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.; Department of Molecular Medicine, University of Pavia, Pavia, Italy. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2023 May; Vol. 191 (5), pp. 1395-1400. Date of Electronic Publication: 2023 Feb 09. |
| Publication Type: | Case Reports; Research Support, Non-U.S. Gov't; Journal Article |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 36756855 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Marked intrafamilial variability of clinical and neuroimaging manifestations in NFIB-related developmental disorder. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Gana+S%22">Gana S</searchLink>; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Serpieri+V%22">Serpieri V</searchLink>; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Giorgio+E%22">Giorgio E</searchLink>; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.; Department of Molecular Medicine, University of Pavia, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Iorio+M%22">Iorio M</searchLink>; Department of Brain and Behavioual Sciences, University of Pavia, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Rognone+E%22">Rognone E</searchLink>; Advanced Imaging and Radiomics Center, Neuroradiology Department, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Pichiecchio+A%22">Pichiecchio A</searchLink>; Department of Brain and Behavioual Sciences, University of Pavia, Pavia, Italy.; Advanced Imaging and Radiomics Center, Neuroradiology Department, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Chiappedi+M%22">Chiappedi M</searchLink>; Child Neurology and Psychiatry Unit, ASST Pavia, Vigevano, Italy.<br /><searchLink fieldCode="AU" term="%22Valente+EM%22">Valente EM</searchLink>; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.; Department of Molecular Medicine, University of Pavia, Pavia, Italy. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2023 May; Vol. 191 (5), pp. 1395-1400. <i>Date of Electronic Publication: </i>2023 Feb 09. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Research Support, Non-U.S. Gov't; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=36756855 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ajmg.a.63138 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1395 Titles: – TitleFull: Marked intrafamilial variability of clinical and neuroimaging manifestations in NFIB-related developmental disorder. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Gana S – PersonEntity: Name: NameFull: Serpieri V – PersonEntity: Name: NameFull: Giorgio E – PersonEntity: Name: NameFull: Iorio M – PersonEntity: Name: NameFull: Rognone E – PersonEntity: Name: NameFull: Pichiecchio A – PersonEntity: Name: NameFull: Chiappedi M – PersonEntity: Name: NameFull: Valente EM IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 05 Text: 2023 May Type: published Y: 2023 Identifiers: – Type: issn-electronic Value: 1552-4833 Numbering: – Type: volume Value: 191 – Type: issue Value: 5 Titles: – TitleFull: American journal of medical genetics. Part A Type: main |
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