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Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype

Genetics in Medicine(2021)10.1016/j.gim.2021.09.005Source: DataRank Database

Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype is a research paper published in Genetics in Medicine (2021). On theSindex it has a DataRank of 0. It has been cited 25 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access25 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (4 grants)OA: greenTopics (27)IDs (PubMed)SDGs (1)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (51)

Frédéric Ebstein ORCID,Anna Hurst ORCID,Marie Vincent ORCID,Ingrid Bader ORCID,Natasha L. Rudy ORCID

Live enrichment

PubMed:34906456

Deutsche Forschungsgemeinschaft

Grant: DFG RTG PRO 2719/ B4

Deutsche Forschungsgemeinschaft

Grant: SFBTR 167 TP A4

Deutsche Forschungsgemeinschaft

Grant: SFBTR 186 TP A13

Deutsche Forschungsgemeinschaft

Grant: unidentified

unidentified

greenLicense: other-oa

repositoryhttp://www.gimjournal.org/article/S1098360021041320/pdf

publisherhttps://api.elsevier.com/content/article/PII:S1098360021041320?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S1098360021041320?httpAccept=text/plain

repositoryhttps://hal.science/hal-05513559

repositoryhttps://hdl.handle.net/10818/60077

Fields of Study

0301 basic medicine0303 health sciences03 medical and health sciences

MeSH Terms

HumansMusculoskeletal AbnormalitiesLanguage Development DisordersPhenotypeHaploinsufficiencyIntellectual Disability

Keywords

InterferonProteasomeThumbIntellectual DisabilityPsmd12Pouce[SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology[SDV.BDD.EO] Life Sciences [q-bio]/Development Biology/Embryology and OrganogenesisHaploinsufficiency[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human geneticsMusculoskeletal AbnormalitiesDéficience intellectuellePhenotypeInterféron[SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN]HumansLanguage Development DisordersProtéasome

Sustainable Development Goals

SDG 3: 3. Good health