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452 results on '"Scala, Marcello"'

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1. BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

2. Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

5. Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

6. Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

7. Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

8. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.

9. Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

12. Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.

13. mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion.

14. Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

16. Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities

17. De novo variants in DENND5B cause a neurodevelopmental disorder

18. Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

19. A Framework for Supporting Adaptive Human-AI Teaming in Air Traffic Control

20. De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke

21. Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

22. Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

23. A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

25. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

26. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

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

29. ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model

31. V-ATPase Dysfunction in the Brain: Genetic Insights and Therapeutic Opportunities.

32. De novo variants in DENND5B cause a neurodevelopmental disorder

33. Human mutations in SLITRK3 implicated in GABAergic synapse development in mice

34. Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations

35. Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study

37. Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion.

38. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

39. Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

40. Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome

41. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

42. Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

44. Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy.

45. Truncating variants in PAPSS2 gene: A cause of early prenatal onset brachyolmia?

46. Expanding the phenotype of UPF3B‐related disorder: Case reports and literature review.

49. Epilepsy Course and Developmental Trajectories in STXBP1-DEE

50. Variant-specific pathophysiological mechanisms ofAFF3differently influence transcriptome profiles

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