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2. From gestalt to gene: early predictive dysmorphic features of PMM2-CDG. Issue 4 (21st November 2018)

3. Karyomapping allows preimplantation genetic diagnosis of a de-novo deletion undetectable using conventional PGD technology. Issue 6 (December 2015)

4. Okur‐Chung neurodevelopmental syndrome in a patient from Spain. Issue 1 (15th November 2019)