Article detail · 2020 · article
A homozygote frameshift mutation in OCLN gene result in Pseudo-TORCH syndrome type I: A case report extending the phenotype with central diabetes insipidus and renal dysfunction
ISSN1769-7212
YÖKSİS
OpenAlex
Year2020
Citations10OpenAlex
Citations8Semantic Scholar
Percentile%58.9
FWCI0.361.00 = world average
Scopus (SJR)Q2
WoS (JCR)Q3
Data source split
- YÖKSİSYÖKSİS article record
- YÖKSİS venueEuropean Journal of Medical Genetics
- Catalog match (ISSN)European Journal of Medical Genetics
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- Semantic Scholarcitation count (not merged with OpenAlex)
Abstract
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Topics
Citations
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10citationsOpenAlex · cited_by_count (cache / database)
4 publications in the local catalog that cite this work (OpenAlex reference match; not the full global list).
- 2021 OCLN gene variants identified in three patients with severe neurodevelopmental disorder associated with epilepsy, intellectual disability and malformation of cortical developmentCitations 4 · OpenAlex
- 2021 OCLN gene variants identified in three patients with severe neurodevelopmental disorder associated with epilepsy, intellectual disability and malformation of cortical developmentCitations 4 · OpenAlex
- 2021 OCLN gene variants identified in three patients with severe neurodevelopmental disorder associated with epilepsy, intellectual disability and malformation of cortical developmentCitations 4 · OpenAlex
- 2021 OCLN gene variants identified in three patients with severe neurodevelopmental disorder associated with epilepsy, intellectual disability and malformation of cortical developmentCitations 4 · OpenAlex