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102 results on '"Marcello Scala"'

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

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

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

4. Refining the electroclinical spectrum of NPRL3‐related epilepsy: A novel multiplex family and literature review

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

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

7. Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia

8. Testing for pharmacogenomic predictors of ppRNFL thinning in individuals exposed to vigabatrin

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

10. Case report: Revascularization failure in NF1-related moyamoya syndrome after selumetinib: A possible pathophysiological correlation?

11. Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants

12. Symptomatic eating epilepsy: two novel pediatric patients and review of literature

13. A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome

14. The Pathophysiological Link Between Reelin and Autism: Overview and New Insights

15. Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project

16. Diagnostic Approach to Macrocephaly in Children

18. Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development

19. Pathophysiological Mechanisms in Neurodevelopmental Disorders Caused by Rac GTPases Dysregulation: What’s behind Neuro-RACopathies

21. Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity

22. Epilepsy Course and Developmental Trajectories in STXBP1 -DEE

23. Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues

24. Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series

25. De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes

26. Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder

27. Elucidating the clinical and molecular spectrum ofSMARCC2-associated NDD in a cohort of 65 affected individuals

28. Expanding the phenotype associated with biallelic SLC20A2 variants

29. Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213

30. Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

31. Congenital myopathy associated with a novel mutation in

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

34. Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study

35. Spinal involvement in pediatric familial cavernous malformation syndrome

36. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

37. Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

38. Congenital posterior cervical spine malformation due to biallelic c.240‐4T>G RIPPLY2 variant: A discrete entity

39. Systematic analysis and prediction of genes associated with disorders on chromosome X

40. Gain-of-function p.F28S variant in

41. De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum

42. Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients

43. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

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

45. Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course

46. Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes

47. Author response for 'Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins'

48. RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome

49. Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy

50. Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia

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