46 results on '"Pozzi, Elisa"'
Search Results
2. Efficient wastewater sample filtration improves the detection of SARS-CoV-2 variants: An extensive analysis based on sequencing parameters
3. In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients
4. Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot
5. Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia
6. A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT)
7. Analysis of the DNA methylation pattern of the promoter region of calcitonin gene-related peptide 1 gene in patients with episodic migraine: An exploratory case-control study
8. Maternal polymorphisms for methyltetrahydrofolate reductase and methionine synthetase reductase and risk of children with Down syndrome
9. A high‐content drug screening strategy to identify protein level modulators for genetic diseases: A proof‐of‐principle in autosomal dominant leukodystrophy
10. Identifying the causes of stillbirth: a comparison of four classification systems
11. Prenatal ultrasound detection and natural history of trisomy 18: P2-48
12. SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis
13. Risk assessment for Down syndrome with genetic sonogram in women at risk†
14. Preterm twins: What threshold of birth weight discordance heralds major adverse neonatal outcome?
15. Doppler predictors of adverse neonatal outcome in the growth restricted fetus at 34 weeks' gestation or beyond
16. Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity
17. A high‐content drug screening strategy to identify protein level modulators for genetic diseases: A proof‐of‐principle in autosomal dominant leukodystrophy.
18. Spinocerebellar Ataxia Tethering PCR
19. Mice harboring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.
20. A novel homozygous change ofCLCN2(p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT)
21. Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes
22. LAMIN B1 EXPRESSION IS AFFECTED BY EBV INFECTION IN LYMPHOBLASTS OF PATIENTS WITH AUTOSOMAL DOMINANT LEUKODYSTROPHY THROUGH MIR-23 DEREGULATION
23. EXOME SEQUENCING REVEALS A NEW CLN5 MUTATION IN AN ADULT FORM OF CEREBELLAR ATAXIA
24. LARGE CRYPTIC GENOMIC REARRANGEMENTS WITH APPARENTLY NORMAL KARYOTYPES DETECTED BY ARRAY-CGH
25. TWO NOVEL MISSENSE COL4A1 MUTATIONS AND GENETICS HETEROGENEITY IN PORENCEPHALY
26. Adverse Perinatal Outcome in Subsequent Pregnancy after Stillbirth by Placental Vascular Disorders
27. Parental counseling in trisomy 18: Novel insights in prenatal features and postnatal survival
28. Blood metal levels and related antioxidant enzyme activities in patients with ataxia telangiectasia
29. EXOME SEQUENCING REVEALS AN ATYPICAL CASE OF SCAR1 WITH MYOCLONIC MOVEMENTS AT ONSET
30. An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2
31. Stillbirths in singletons, dichorionic and monochorionic twins: a comparison of risks and causes
32. Parental counseling in trisomy 18: Novel insights in prenatal features and postnatal survival.
33. Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO)
34. 403: Stillbirths: a comparison of singletons vs twins
35. 382: Determinants of parental decision after prenatal diagnosis of isolated Spina Bifida
36. A novel homozygous change of (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT).
37. 145: Midtrimester sonographic findings for the prediction of Down syndrome in a population at risk
38. 286: Etiology of stillbirth: Comparison between two classification
39. An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.
40. Midtrimester sonographic findings for the prediction of down syndrome in a population at risk
41. Maternal polymorphisms for methyltetrahydrofolate reductase (MTHFR) and methioninesynthetasi-reductase (MTRR) and risk of children with down syndrome: A geographic effect?
42. Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO).
43. A novel homozygous change of CLCN2(p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT)
44. Al testament balurd da zia Celesta
45. Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity
46. Stillbirths in singletons, dichorionic and monochorionic twins: a comparison of risks and causes.
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