Liisa
Ojala
Clinical Lecturer, Ophthalmology
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Publications
Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant (2023)
European Journal of Medical Genetics
(Vertaisarvioitu alkuperäisartikkeli tai data-artikkeli tieteellisessä aikakauslehdessä (A1))
Report of a Novel Homozygous Intragenic DCC Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome (2023)
Molecular syndromology
(A2 Vertaisarvioitu katsausartikkeli tieteellisessä lehdessä)