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Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features

Document Type

Article

Author

Zaki, M.S.; Accogli, A.; Mirzaa, G.; Rahman, F.; Maqbool, S.; Mohammed, H.; Porras-Hurtado, G.L.; Efthymiou, S.; Houlden, H.; Maroofian, R.; Shukla, A.; Vincent, J.B.; Hussain, A.; Mir, A.; Beetz, C.; Leubauer, A.; Gleeson, J.G.

Source

In: European Journal of Human Genetics. (European Journal of Human Genetics, August 2021, 29(8):1226-1234)

Subject

Language

English

ISSN

14765438
10184813

Online Access

Full Text (ProQuest Central) Open Access (EBSCO) Web of Science JCR 저널정보 Scopus Find it@PNU

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