Aminoacyl-tRNA synthetase deficiencies in search of common themes.
Saved in:
| Title: | Aminoacyl-tRNA synthetase deficiencies in search of common themes. |
|---|---|
| Authors: | Fuchs SA; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, Utrecht, 3584 EA, The Netherlands. S.Fuchs@umcutrecht.nl., Schene IF; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, Utrecht, 3584 EA, The Netherlands., Kok G; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, Utrecht, 3584 EA, The Netherlands., Jansen JM; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, Utrecht, 3584 EA, The Netherlands., Nikkels PGJ; Department of Pathology, University Medical Center Utrecht, Lundlaan 6, Utrecht, 3584 EA, The Netherlands., van Gassen KLI; Department of Genetics, University Medical Centre Utrecht, Lundlaan 6, Utrecht, 3584 EA, The Netherlands., Terheggen-Lagro SWJ; Department of Pediatric Pulmonology, Academic Medical Center Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ, The Netherlands., van der Crabben SN; Department of Clinical Genetics, VU University Medical Center, De Boelelaan 1117, Amsterdam, 1081HV, The Netherlands., Hoeks SE; Department of Neonatology, University Medical Center Utrecht, Lundlaan 6, Utrecht, 3584 EA, The Netherlands., Niers LEM; Department of Pediatrics, Maxima Medical Centre Veldhoven, De Run 4600, Veldhoven, 5504 DB, The Netherlands., Wolf NI; Department of Child Neurology, VU University Medical Center, De Boelelaan 1117, Amsterdam, 1081HV, The Netherlands., de Vries MC; Nijmegen Centre for Mitochondrial Disorders at Department of Pediatrics, Radboud University Nijmegen Centre, Nijmegen, The Netherlands., Koolen DA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500 HB, The Netherlands., Houwen RHJ; Division of Pediatric Gastroenterology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, Utrecht, 3584 EA, The Netherlands., Mulder MF; Department of Pediatrics, VU University Medical Center, De Boelelaan 1117, Amsterdam, 1081HV, The Netherlands., van Hasselt PM; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, Utrecht, 3584 EA, The Netherlands. |
| Source: | Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Feb; Vol. 21 (2), pp. 319-330. Date of Electronic Publication: 2018 Jun 06. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
|---|---|
| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 29875423 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
| IllustrationInfo | |
| Items | – Name: Title Label: Title Group: Ti Data: Aminoacyl-tRNA synthetase deficiencies in search of common themes. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Fuchs+SA%22">Fuchs SA</searchLink>; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, Utrecht, 3584 EA, The Netherlands. S.Fuchs@umcutrecht.nl.<br /><searchLink fieldCode="AU" term="%22Schene+IF%22">Schene IF</searchLink>; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, Utrecht, 3584 EA, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kok+G%22">Kok G</searchLink>; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, Utrecht, 3584 EA, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Jansen+JM%22">Jansen JM</searchLink>; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, Utrecht, 3584 EA, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Nikkels+PGJ%22">Nikkels PGJ</searchLink>; Department of Pathology, University Medical Center Utrecht, Lundlaan 6, Utrecht, 3584 EA, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Gassen+KLI%22">van Gassen KLI</searchLink>; Department of Genetics, University Medical Centre Utrecht, Lundlaan 6, Utrecht, 3584 EA, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Terheggen-Lagro+SWJ%22">Terheggen-Lagro SWJ</searchLink>; Department of Pediatric Pulmonology, Academic Medical Center Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+der+Crabben+SN%22">van der Crabben SN</searchLink>; Department of Clinical Genetics, VU University Medical Center, De Boelelaan 1117, Amsterdam, 1081HV, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Hoeks+SE%22">Hoeks SE</searchLink>; Department of Neonatology, University Medical Center Utrecht, Lundlaan 6, Utrecht, 3584 EA, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Niers+LEM%22">Niers LEM</searchLink>; Department of Pediatrics, Maxima Medical Centre Veldhoven, De Run 4600, Veldhoven, 5504 DB, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Wolf+NI%22">Wolf NI</searchLink>; Department of Child Neurology, VU University Medical Center, De Boelelaan 1117, Amsterdam, 1081HV, The Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Vries+MC%22">de Vries MC</searchLink>; Nijmegen Centre for Mitochondrial Disorders at Department of Pediatrics, Radboud University Nijmegen Centre, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Koolen+DA%22">Koolen DA</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500 HB, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Houwen+RHJ%22">Houwen RHJ</searchLink>; Division of Pediatric Gastroenterology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, Utrecht, 3584 EA, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Mulder+MF%22">Mulder MF</searchLink>; Department of Pediatrics, VU University Medical Center, De Boelelaan 1117, Amsterdam, 1081HV, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Hasselt+PM%22">van Hasselt PM</searchLink>; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, Utrecht, 3584 EA, The Netherlands. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2019 Feb; Vol. 21 (2), pp. 319-330. <i>Date of Electronic Publication: </i>2018 Jun 06. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9815831 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1530-0366 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210983600%22">10983600 </searchLink><i>NLM ISO Abbreviation: </i>Genet Med <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=29875423 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1038/s41436-018-0048-y Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 319 Titles: – TitleFull: Aminoacyl-tRNA synthetase deficiencies in search of common themes. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Fuchs SA – PersonEntity: Name: NameFull: Schene IF – PersonEntity: Name: NameFull: Kok G – PersonEntity: Name: NameFull: Jansen JM – PersonEntity: Name: NameFull: Nikkels PGJ – PersonEntity: Name: NameFull: van Gassen KLI – PersonEntity: Name: NameFull: Terheggen-Lagro SWJ – PersonEntity: Name: NameFull: van der Crabben SN – PersonEntity: Name: NameFull: Hoeks SE – PersonEntity: Name: NameFull: Niers LEM – PersonEntity: Name: NameFull: Wolf NI – PersonEntity: Name: NameFull: de Vries MC – PersonEntity: Name: NameFull: Koolen DA – PersonEntity: Name: NameFull: Houwen RHJ – PersonEntity: Name: NameFull: Mulder MF – PersonEntity: Name: NameFull: van Hasselt PM IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 02 Text: 2019 Feb Type: published Y: 2019 Identifiers: – Type: issn-electronic Value: 1530-0366 Numbering: – Type: volume Value: 21 – Type: issue Value: 2 Titles: – TitleFull: Genetics in medicine : official journal of the American College of Medical Genetics Type: main |
| ResultId | 1 |