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The diagnosis of the first-documented intragenic KANSL1 microduplication patient broadens the genetic spectrum of Koolen de Vries syndrome.

Document Type

Article

Author

Martorell, Loreto; Yubero, Delia; Cuatrecasas Capdevila, Esther; Fernández Isern, Guerau; Salinas, Diana; Mari Vico, Rosanna; Rebollo, Monica; Muchart, Jordi; Armstrong, Judith; Ortigoza-Escobar, Juan Darío

Source

Clinical Genetics. May/Jun2022, Vol. 101 Issue 5/6, p575-576. 2p.

Subject

*SYNDROMES
*DIAGNOSIS
*PATIENTS

Language

ISSN

0009-9163

Online Access

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

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