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A Natural History Study of Timothy Syndrome

Orphanet Journal of Rare Diseases(2024)10.1186/s13023-024-03445-xSource: DataRank Database

A Natural History Study of Timothy Syndrome is a research paper published in Orphanet Journal of Rare Diseases (2024). On theSindex it has a DataRank of 0. It has been cited 14 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access14 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (8 grants)OA: goldTopics (38)Linked Datasets (2)DataCite Reuse (2)IDs (PubMed, PMC)Annotations (1)

FAIR Checklist

Context only (not used in score)

Findable (2/2)

Has DOI
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Accessible (1/2)

Open Access

Interoperable (2/2)

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Reusable (0/3)

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Authors (10)

Rosemary Bauer ORCID,Kerry Larkin ORCID,Edward P. Walsh ORCID,Dominic Abrams ORCID,M. Cecilia Gonzalez Corcia ORCID

Live enrichment

PubMed:39580446 PMC:PMC11585941

National Institute of Diabetes and Digestive and Kidney Diseases

Grant: ZIA DK075075

National Heart, Lung, and Blood Institute

Grant: R01HL146149

National Heart, Lung, and Blood Institute

Grant: R01HL151190

National Heart, Lung, and Blood Institute

Grant: R01HL149926

National Institutes of Health

Grant: 5R01HL146149-03

Phosphorylation-dependent regulation of calcium channels by macromolecular complexes

National Institutes of Health

Grant: 2R01HL149926-06

Next generation calcium channel modulators

National Institutes of Health

Grant: 1ZIADK075075-11

The Investigation of disease causing genes in C. elegans

National Institutes of Health

Grant: 1R01HL151190-01A1

Investigating the role of CaV1.2 in aortic valve stenosis

goldLicense: cc-by

publisherhttps://ojrd.biomedcentral.com/counter/pdf/10.1186/s13023-024-03445-x

publisherhttps://link.springer.com/content/pdf/10.1186/s13023-024-03445-x.pdf

publisherhttps://link.springer.com/article/10.1186/s13023-024-03445-x/fulltext.html

repositoryhttps://pmc.ncbi.nlm.nih.gov/articles/PMC11585941/pdf/13023_2024_Article_3445.pdf

Europe_PMChttps://europepmc.org/articles/PMC11585941

Fields of Study

0303 health sciences03 medical and health sciences

MeSH Terms

HumansSyndactylyLong QT SyndromeCalcium Channels, L-TypeAutistic DisorderGenotypePhenotypeMutationAdolescentChildChild, PreschoolInfantFemaleMale

Keywords

HypoglycemiaLong QtSyndactylyTimothy SyndromeNeurodevelopmental DelayCacna1c MutationMaleCalcium Channels, L-TypeGenotypeAdolescentResearchRInfantLong QT SyndromePhenotypeChild, PreschoolMutationMedicineHumansFemaleAutistic DisorderChild

Additional file 1 of A Natural History Study of Timothy Syndrome

10.6084/m9.figshare.27895948.v1figshare

Additional file 1 of A Natural History Study of Timothy Syndrome

10.6084/m9.figshare.27895948figshare

A Natural History Study of Timothy Syndrome

FAIR Checklist

Authors (10)

Funding (8 grants)

Open Access

Topics

Linked Datasets (2)

Annotations (Europe PMC)