26 results on '"Zonta, Andrea"'
Search Results
2. When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort
3. The New Modular Sforzesco Brace (Modular Italian Brace) Is as Effective as the Classical One: A Retrospective Controlled Study from a Prospective Cohort
4. A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants
5. Testing for the cytosine insertion in the VNTR of the MUC1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease
6. The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders
7. Life-Threatening Tumors of the Heart in Fetal and Postnatal Age
8. Next-Generation Sequencing Advances the Genetic Diagnosis of Cerebral Cavernous Malformation (CCM)
9. Impact of the Free-Pelvis Innovation in Very Rigid Braces for Adolescents with Idiopathic Scoliosis: Short-Term Results of a Matched Case-Control Study
10. A matched case-control study of the free pelvis vs the classical very-rigid Sforzesco brace in 436 high degree AIS not previously braced
11. KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity
12. KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity
13. Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot
14. Diagnosis of maternal Hodgkin lymphoma following abnormal findings at noninvasive prenatal screening test (NIPT): Report of two cases
15. A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in SPTBN2
16. Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings
17. Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism
18. Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings.
19. Angiomyolipoma rebound tumor growth after discontinuation of everolimus in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis
20. Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome)
21. Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome)
22. Evaluation of spinal mobility by pocket goniometer (Inclimed R) in patients with ankylosing: preliminary report
23. Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications
24. La disfagia orofaringea nei postumi di ictus cerebrale. Considerazioni riabilitative
25. Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications.
26. Team care to cure adolescents with braces (avoiding low quality of life, pain and bad compliance): a case–control retrospective study. 2011 SOSORT Award winner
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