A Natural History Study of Timothy Syndrome.
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| Title: | A Natural History Study of Timothy Syndrome. |
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| Authors: | Timothy KW; The Timothy Syndrome Foundation, Charitable Organization, Brigham City, UT, USA., Bauer R; Laboratory of Biochemistry and Genetics, National Institute of Diabetes, Digestive, and Kidney Diseases, National Institute of Health, Bethesda, MD, USA.; Division of Endocrinology, Metabolism, and Molecular Medicine, Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Larkin KA; Laboratory of Biochemistry and Genetics, National Institute of Diabetes, Digestive, and Kidney Diseases, National Institute of Health, Bethesda, MD, USA.; Department of Cell Biology, Yale School of Medicine, 295 Congress Ave, New Haven, CT, USA., Walsh EP; Department of Cardiology, Harvard Medical School, Boston Children's Hospital, Boston, MA, USA., Abrams DJ; Department of Cardiology, Harvard Medical School, Boston Children's Hospital, Boston, MA, USA., Gonzalez Corcia C; Department of Cardiology, Sainte Justine Hospital, Montreal, QC, Canada., Valsamakis A; Clinical Development and Medical Affairs, Roche Diagnostics Solutions, Pleasanton, CA, USA., Pitt GS; Cardiovascular Research Institute, Weill Cornell Medicine, New York, NY, USA., Dick IE; Department of Physiology, School of Medicine, University of Maryland, Baltimore, MD, USA. ied@som.umaryland.edu., Golden A; Laboratory of Biochemistry and Genetics, National Institute of Diabetes, Digestive, and Kidney Diseases, National Institute of Health, Bethesda, MD, USA. |
| Source: | Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Nov 23; Vol. 19 (1), pp. 433. Date of Electronic Publication: 2024 Nov 23. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural |
| 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: 39580446 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A Natural History Study of Timothy Syndrome. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Timothy+KW%22">Timothy KW</searchLink>; The Timothy Syndrome Foundation, Charitable Organization, Brigham City, UT, USA.<br /><searchLink fieldCode="AU" term="%22Bauer+R%22">Bauer R</searchLink>; Laboratory of Biochemistry and Genetics, National Institute of Diabetes, Digestive, and Kidney Diseases, National Institute of Health, Bethesda, MD, USA.; Division of Endocrinology, Metabolism, and Molecular Medicine, Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Larkin+KA%22">Larkin KA</searchLink>; Laboratory of Biochemistry and Genetics, National Institute of Diabetes, Digestive, and Kidney Diseases, National Institute of Health, Bethesda, MD, USA.; Department of Cell Biology, Yale School of Medicine, 295 Congress Ave, New Haven, CT, USA.<br /><searchLink fieldCode="AU" term="%22Walsh+EP%22">Walsh EP</searchLink>; Department of Cardiology, Harvard Medical School, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Abrams+DJ%22">Abrams DJ</searchLink>; Department of Cardiology, Harvard Medical School, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Gonzalez+Corcia+C%22">Gonzalez Corcia C</searchLink>; Department of Cardiology, Sainte Justine Hospital, Montreal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Valsamakis+A%22">Valsamakis A</searchLink>; Clinical Development and Medical Affairs, Roche Diagnostics Solutions, Pleasanton, CA, USA.<br /><searchLink fieldCode="AU" term="%22Pitt+GS%22">Pitt GS</searchLink>; Cardiovascular Research Institute, Weill Cornell Medicine, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Dick+IE%22">Dick IE</searchLink>; Department of Physiology, School of Medicine, University of Maryland, Baltimore, MD, USA. ied@som.umaryland.edu.<br /><searchLink fieldCode="AU" term="%22Golden+A%22">Golden A</searchLink>; Laboratory of Biochemistry and Genetics, National Institute of Diabetes, Digestive, and Kidney Diseases, National Institute of Health, Bethesda, MD, USA. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2024 Nov 23; Vol. 19 (1), pp. 433. <i>Date of Electronic Publication: </i>2024 Nov 23. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural – 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=39580446 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13023-024-03445-x Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 433 Titles: – TitleFull: A Natural History Study of Timothy Syndrome. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Timothy KW – PersonEntity: Name: NameFull: Bauer R – PersonEntity: Name: NameFull: Larkin KA – PersonEntity: Name: NameFull: Walsh EP – PersonEntity: Name: NameFull: Abrams DJ – PersonEntity: Name: NameFull: Gonzalez Corcia C – PersonEntity: Name: NameFull: Valsamakis A – PersonEntity: Name: NameFull: Pitt GS – PersonEntity: Name: NameFull: Dick IE – PersonEntity: Name: NameFull: Golden A IsPartOfRelationships: – BibEntity: Dates: – D: 23 M: 11 Text: 2024 Nov 23 Type: published Y: 2024 Identifiers: – Type: issn-electronic Value: 1750-1172 Numbering: – Type: volume Value: 19 – Type: issue Value: 1 Titles: – TitleFull: Orphanet journal of rare diseases Type: main |
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