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2. Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan–Herndon–Dudley Syndrome. Issue 3 (5th January 2017)

3. Comprehensive characterization of mesenchymal stromal cells from patients with Fanconi anaemia. (26th May 2015)

4. Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion. Issue 8 (12th May 2014)

5. Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder. (February 2021)

6. Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature. Issue 1 (December 2016)

7. Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature. Issue 1 (December 2016)

8. Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study. (May 2021)

10. Impact of Different Measures of Body Size on the Radiation Dose During Coronary Angiography and Percutaneous Coronary Intervention: Results from a Large Single Center Cohort. (May 2022)