Article detail · 2013 · article
A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome
Journal
Human Genetics
ISSN0340-6717
YÖKSİS
OpenAlex
Top 10%
Year2013
Citations61OpenAlex
Citations0Semantic Scholar
Percentile%92.7
FWCI4.031.00 = world average
Scopus (SJR)Q1
WoS (JCR)Q1
Data source split
- YÖKSİSYÖKSİS article record
- YÖKSİS venueHuman Genetics
- Catalog match (ISSN)Human Genetics
- OpenAlexOpenAlex enrichment (abstract, citations, topics)
- Semantic Scholarcitation count (not merged with OpenAlex)
Abstract
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Topics
Citations
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61citationsOpenAlex · cited_by_count (cache / database)
5 publications in the local catalog that cite this work (OpenAlex reference match; not the full global list).
- 2023 Expanding the Clinical and Immunological Phenotypes of PAX1-deficient SCID and CID PatientsCitations 13 · OpenAlex
- 2023 Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patientsCitations 13 · OpenAlex
- 2023 Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patientsCitations 13 · OpenAlex
- 2023 Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patientsCitations 13 · OpenAlex
- 2024 Primary Immunodeficiencies: Upper Respiratory Tract ConsequencesCitations 0 · OpenAlex