Associated Papers
Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.
Lee SY et al.
Cell Reports. Medicine, 2025
40592345 (PubMed )
Supplement: mmc2.xlsx › Table_S2
Hearing Loss in Baraitser-Winter Syndrome: Case Reports and Review of the Literature.
Ghiselli S et al.
Journal of Clinical Medicine, 2024
Obsessive-compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
Göbel T et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2022
Expression and localization of FRMD7 in human fetal brain, and a role for F-actin.
Pu J et al.
Molecular Vision, 2011
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