The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.
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| Title: | The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued. |
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| Authors: | Schröder S; Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center, Göttingen, Germany., Yigit G; Institute of Human Genetics, University Medical Center, Göttingen, Germany., Li Y; Institute of Human Genetics, University Medical Center, Göttingen, Germany., Altmüller J; Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Core Facility Genomics, Berlin, Germany.; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany., Büttel HM; MVZ Genetikum GmbH, Stuttgart, Germany., Fiedler B; Division of Neuropediatrics, Department of General Pediatrics, University Hospital Münster, Münster, Germany., Kretzschmar C; Sozialpädiatrisches Zentrum, Städtisches Klinikum Dresden, Dresden, Germany., Nürnberg P; Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Seeger J; Center of Developmental Neurology (SPZ Frankfurt Mitte), Frankfurt, Germany., Serpieri V; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy., Valente EM; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy., Wollnik B; Institute of Human Genetics, University Medical Center, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany., Boltshauser E; Department of Pediatric Neurology (Emeritus), University Children's Hospital, Zurich, Switzerland., Brockmann K; Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center, Göttingen, Germany. kbrock@med.uni-goettingen.de. |
| Source: | Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 May 02; Vol. 18 (1), pp. 101. Date of Electronic Publication: 2023 May 02. |
| Publication Type: | Observational Study; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 37131188 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Schröder+S%22">Schröder S</searchLink>; Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Yigit+G%22">Yigit G</searchLink>; Institute of Human Genetics, University Medical Center, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Li+Y%22">Li Y</searchLink>; Institute of Human Genetics, University Medical Center, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Altmüller+J%22">Altmüller J</searchLink>; Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Core Facility Genomics, Berlin, Germany.; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Büttel+HM%22">Büttel HM</searchLink>; MVZ Genetikum GmbH, Stuttgart, Germany.<br /><searchLink fieldCode="AU" term="%22Fiedler+B%22">Fiedler B</searchLink>; Division of Neuropediatrics, Department of General Pediatrics, University Hospital Münster, Münster, Germany.<br /><searchLink fieldCode="AU" term="%22Kretzschmar+C%22">Kretzschmar C</searchLink>; Sozialpädiatrisches Zentrum, Städtisches Klinikum Dresden, Dresden, Germany.<br /><searchLink fieldCode="AU" term="%22Nürnberg+P%22">Nürnberg P</searchLink>; Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Seeger+J%22">Seeger J</searchLink>; Center of Developmental Neurology (SPZ Frankfurt Mitte), Frankfurt, Germany.<br /><searchLink fieldCode="AU" term="%22Serpieri+V%22">Serpieri V</searchLink>; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Valente+EM%22">Valente EM</searchLink>; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Wollnik+B%22">Wollnik B</searchLink>; Institute of Human Genetics, University Medical Center, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Boltshauser+E%22">Boltshauser E</searchLink>; Department of Pediatric Neurology (Emeritus), University Children's Hospital, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Brockmann+K%22">Brockmann K</searchLink>; Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center, Göttingen, Germany. kbrock@med.uni-goettingen.de. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2023 May 02; Vol. 18 (1), pp. 101. <i>Date of Electronic Publication: </i>2023 May 02. – Name: TypePub Label: Publication Type Group: TypPub Data: Observational Study; Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101266602 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1750-1172 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217501172%22">17501172 </searchLink><i>NLM ISO Abbreviation: </i>Orphanet J Rare Dis <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=37131188 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13023-023-02706-5 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 101 Titles: – TitleFull: The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Schröder S – PersonEntity: Name: NameFull: Yigit G – PersonEntity: Name: NameFull: Li Y – PersonEntity: Name: NameFull: Altmüller J – PersonEntity: Name: NameFull: Büttel HM – PersonEntity: Name: NameFull: Fiedler B – PersonEntity: Name: NameFull: Kretzschmar C – PersonEntity: Name: NameFull: Nürnberg P – PersonEntity: Name: NameFull: Seeger J – PersonEntity: Name: NameFull: Serpieri V – PersonEntity: Name: NameFull: Valente EM – PersonEntity: Name: NameFull: Wollnik B – PersonEntity: Name: NameFull: Boltshauser E – PersonEntity: Name: NameFull: Brockmann K IsPartOfRelationships: – BibEntity: Dates: – D: 02 M: 05 Text: 2023 May 02 Type: published Y: 2023 Identifiers: – Type: issn-electronic Value: 1750-1172 Numbering: – Type: volume Value: 18 – Type: issue Value: 1 Titles: – TitleFull: Orphanet journal of rare diseases Type: main |
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