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Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly

Document Type

Article

Author

Uctepe, E.; Vona, B.; Esen, F.N.; Tümer, S.; Mancılar, H.; Yesilyurt, A.; Sonmez, F.M.; Smol, T.; Geylan Durgun, D.E.; Boute, O.; Moghbeli, M.; Ghayoor Karimiani, E.; Hashemi, N.; Bakhshoodeh, B.; Kim, H.G.; Maroofian, R.

Source

In: European Journal of Human Genetics. (European Journal of Human Genetics, January 2024, 32(1):52-60)

Subject

Language

English

ISSN

14765438
10184813

Online Access

Web of Science JCR 저널정보 Scopus Find it@PNU

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