Suchergebnis | Hamburg Open Science

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3 Einträge gefunden

Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism
2021 - Forschungsinformationssystem des UKE
A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction
2017 - Forschungsinformationssystem des UKE
Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients.
2011 - Forschungsinformationssystem des UKE - frei zugänglich