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2. Autism, language and communication in children with sex chromosome trisomies. Issue 10 (23rd July 2010)

4. Cerebro–costo–mandibular syndrome: Clinical, radiological, and genetic findings. Issue 5 (12th March 2016)

5. Clinical and genetic aspects of KBG syndrome. Issue 11 (26th September 2016)

6. Cover Image, Volume 170A, Number 5, May 2016. Issue 5 (14th April 2016)

7. Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype. Issue 4 (18th March 2019)

8. Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing. (3rd December 2017)

10. Further delineation of Malan syndrome. Issue 9 (25th June 2018)