351 results on '"Mancini, Cecilia"'
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2. SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline
3. Spinocerebellar ataxia 38: structure–function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot
4. Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants
5. Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity
6. Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy
7. Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome
8. Drift burst test statistic in the presence of infinite variation jumps
9. Time evaluation and its accuracy in eating disorders: differences in relation to interoceptive awareness
10. Optimum thresholding using mean and conditional mean square error
11. Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the Literature
12. Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish
13. Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome
14. Health-related quality of life assessment in eating disorders: adjustment and validation of a specific scale with the inclusion of an interpersonal domain
15. Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity
16. Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency.
17. Whole Genome Sequencing Solves an Atypical Form of Bardet–Biedl Syndrome: Identification of Novel Pathogenic Variants of BBS9.
18. Warnings About Future Jumps: Properties of the Exponential Hawkes Model
19. A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants
20. Optimum thresholding using mean and conditional mean squared error
21. Nonparametric tests for pathwise properties of semimartingales
22. Diffusion covariation and co-jumps in bidimensional asset price processes with stochastic volatility and infinite activity Levy jumps
23. Identifying the covariation between the diffusion parts and the co-jumps given discrete observations
24. Non parametric threshold estimation for models with stochastic diffusion coefficients and jumps
25. Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures
26. Truncated Realized Covariance when prices have infinite variation jumps
27. A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q
28. In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients
29. Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome
30. Loss-of-function variants in ERFare associated with a Noonan syndrome-like phenotype with or without craniosynostosis
31. Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
32. Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot
33. Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly
34. Natural history of MRAS‐related Noonan syndrome: Evidence of mild adult‐onset left ventricular hypertrophy and neuropsychiatric features
35. Numerical study of conductive heat losses from a magmatic source at Phlegraean Fields
36. Durata, qualità del sonno e obesità
37. Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria
38. Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium
39. Delineation of the clinical profile ofCNOT2haploinsufficiency and overview of the IDNADFS phenotype
40. Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants
41. Obesità, dieta mediterranea e nutraceutica
42. Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes
43. Measuring the relevance of the microstructure noise in financial data
44. A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT)
45. Quantitative analysis of pulse thermography data for degradation assessment of historical buildings
46. Spot volatility estimation using delta sequences
47. Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations
48. IDENTIFYING THE BROWNIAN COVARIATION FROM THE CO-JUMPS GIVEN DISCRETE OBSERVATIONS
49. Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants
50. SHP2 's gain‐of‐function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction
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