A Natural History Study of Timothy Syndrome.

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Title: A Natural History Study of Timothy Syndrome.
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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  Data: A Natural History Study of Timothy Syndrome.
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  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.
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  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.
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  Data: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural
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  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
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              Text: 2024 Nov 23
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