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Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome.
Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome.
Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22.
Whole-genome sequencing analysis of an atypical teratoid/rhabdoid tumor in a patient with Phelan-McDermid syndrome: a case report and systematic review.
Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.