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2. Enfermedades trofoblásticas gestacionales: molas hidatiformes

6. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

7. Validation of the NIH-Toolbox cognitive battery into different European languages in down syndrome population

10. Tuberous sclerosis complex-associated neuropsychiatric disorders (TAND): further results from the TOSCA natural history study

11. Quality of life and burden of disease in tuberous sclerosis complex (TSC): findings from TOSCA research project

13. Prevalence and management of gastrointestinal manifestations in Silver–Russell syndrome

14. TuberOus SClerosis registry to increAse disease awareness (TOSCA) Post-Authorisation Safety Study of Everolimus in Patients With Tuberous Sclerosis Complex

15. Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS

16. Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype

17. Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas

18. Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

22. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

25. A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

28. Newly diagnosed and growing subependymal giant cell astrocytoma in adults with tuberous sclerosis complex: Results from the International TOSCA Study

29. Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study

33. Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study.

37. Expanding the cardiac spectrum of Noonan syndrome with RIT1 variant: Left main coronary artery atresia causing sudden death

38. Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients

39. TuberOus SClerosis registry to increase disease Awareness (TOSCA) - Baseline data on 2093 patients

43. New insight in ARX-mutated patients' language specific impairment and underlying FOXP1 dysregulation

44. Xq28 duplication includingMECP2in six unreported affected females: what can we learn for diagnosis and genetic counselling?

46. Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations

48. Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects

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