A Female Patient with Xq28 Microduplication Presenting with Myotubular Myopathy, Confirmed with a Custom-Designed X-array.
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| Title: | A Female Patient with Xq28 Microduplication Presenting with Myotubular Myopathy, Confirmed with a Custom-Designed X-array. |
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| Authors: | Kosma K; Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Mitrakos A; Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Sofokleous C; Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.; Medical School, National and Kapodistrian University of Athens, Research Institute for the Study of Genetic and Malignant Diseases in Childhood, 'Aghia Sophia' Children's Hospital, Athens, Greece., Papadimas G; 1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Fryssira H; Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Kitsiou-Tzeli S; Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Tzetis M; Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece. |
| Source: | Neuropediatrics [Neuropediatrics] 2019 Feb; Vol. 50 (1), pp. 61-63. Date of Electronic Publication: 2018 Dec 12. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Hippokrates Verlag Country of Publication: Germany NLM ID: 8101187 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1439-1899 (Electronic) Linking ISSN: 0174304X NLM ISO Abbreviation: Neuropediatrics Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 30541163 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A Female Patient with Xq28 Microduplication Presenting with Myotubular Myopathy, Confirmed with a Custom-Designed X-array. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Kosma+K%22">Kosma K</searchLink>; Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Mitrakos+A%22">Mitrakos A</searchLink>; Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Sofokleous+C%22">Sofokleous C</searchLink>; Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.; Medical School, National and Kapodistrian University of Athens, Research Institute for the Study of Genetic and Malignant Diseases in Childhood, 'Aghia Sophia' Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Papadimas+G%22">Papadimas G</searchLink>; 1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Fryssira+H%22">Fryssira H</searchLink>; Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Kitsiou-Tzeli+S%22">Kitsiou-Tzeli S</searchLink>; Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Tzetis+M%22">Tzetis M</searchLink>; Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%228101187%22">Neuropediatrics</searchLink> [Neuropediatrics] 2019 Feb; Vol. 50 (1), pp. 61-63. <i>Date of Electronic Publication: </i>2018 Dec 12. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Hippokrates+Verlag%22">Hippokrates Verlag </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>8101187 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1439-1899 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%220174304X%22">0174304X </searchLink><i>NLM ISO Abbreviation: </i>Neuropediatrics <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=30541163 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1055/s-0038-1676513 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 61 Titles: – TitleFull: A Female Patient with Xq28 Microduplication Presenting with Myotubular Myopathy, Confirmed with a Custom-Designed X-array. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Kosma K – PersonEntity: Name: NameFull: Mitrakos A – PersonEntity: Name: NameFull: Sofokleous C – PersonEntity: Name: NameFull: Papadimas G – PersonEntity: Name: NameFull: Fryssira H – PersonEntity: Name: NameFull: Kitsiou-Tzeli S – PersonEntity: Name: NameFull: Tzetis M IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 02 Text: 2019 Feb Type: published Y: 2019 Identifiers: – Type: issn-electronic Value: 1439-1899 Numbering: – Type: volume Value: 50 – Type: issue Value: 1 Titles: – TitleFull: Neuropediatrics Type: main |
| ResultId | 1 |
