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Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants

Document Type

Article

Author

Khan, S.; Davis, E.E.; Abbas, W.; Focșa, I.O.; Stoica, C.; Nedelea, F.; Bohîlțea, L.; Bălgrădean, M.; Budișteanu, M.; Caba, L.; Butnariu, L.; Pânzaru, M.; Rusu, C.; Jurcă, C.; Chirita-Emandi, A.; Bănescu, C.; Sadeghpour, A.; Baig, S.M.

Source

In: American Journal of Medical Genetics, Part A. (American Journal of Medical Genetics, Part A, September 2023, 191(9):2376-2391)

Subject

Language

English

ISSN

15524833
15524825

Online Access

Full Text (Wiley Journals) Full Text (Wiley-DB) Web of Science JCR 저널정보 Scopus Find it@PNU

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