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181 results on '"Cardaropoli, Simona"'

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1. Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant

3. Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes

4. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

5. DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity

7. Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder

12. Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development

14. Skewed X-chromosome Inactivation in Unsolved Neurodevelopmental Disease Cases Can Guide Re-evaluation for X-linked Genes

15. Successful treatment with MEK ‐inhibitor in a patient withNRAS‐related cutaneous skeletal hypophosphatemia syndrome

16. Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques

17. Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies

19. MEK Inhibition in a Newborn with RAF1-Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease

22. Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA ‐related overgrowth spectrum

23. Clinical and molecular characterization of patients with Beckwith-Wiedemann spectrum conceived through assisted reproductive technology

25. A new case of Smith‐Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth

28. Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing.

30. Cover Image, Volume 179A, Number 9, September 2019

32. Pregnancy Epigenetic Signature in T Helper 17 and T Regulatory Cells in Multiple Sclerosis

33. Missense variants in RPH3Acause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder

35. Helicobacter pyloriinfection contributes to placental impairment in preeclampsia: basic and clinical evidences

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