S. Moosa

发表

Floating-Harbor Syndrome: Presentation of The First Romanian Patient with a SRCAP Mutation and Review of The Literature

M. Budisteanu, B. Wollnik, M. Thoenes, 2018, Balkan journal of medical genetics : BJMG.

Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

Heinen, Heiko, Kehrer, 2023, medRxiv.

GestaltMatcher Database - a FAIR database for medical imaging data of rare disorders

M. Mücke, K. Devriendt, C. Nellåker, 2023, medRxiv.

Case report: Enamel renal syndrome: a case series from sub-Saharan Africa

M. Chetty, M. Chothia, I. Roomaney, 2023, Frontiers in oral health.