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Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly

Document Type

Article

Author

Ghosh, S.G.; Wang, L.; Breuss, M.W.; Stanley, V.; Yang, X.; Ross, D.; Gleeson, J.G.; Green, J.D.; Traynor, B.J.; Alhashem, A.M.; Azam, M.; Selim, L.; Bastaki, L.; Elbastawisy, H.I.; Temtamy, S.; Zaki, M.

Source

In: Journal of Medical Genetics. (Journal of Medical Genetics, 1 April 2020, 57(4):274-282)

Subject

Language

English

ISSN

14686244
00222593

Online Access

Full Text (BMJ Journals) Full Text (ProQuest Central) Web of Science JCR 저널정보 Scopus Find it@PNU

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