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4. An X‐linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene. Issue 2 (9th November 2020)

9. Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?. Issue 1 (1st January 2000)

10. Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss. Issue 1 (1st January 2001)