423 results on '"PICCIONE, Maria"'
Search Results
2. Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene
3. Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
4. The EU Interreg Project “GEREMIA” on waste management for the improvement of port waters: results on monitoring the health status of fish as bioindicator
5. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
6. DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies
7. Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene
8. Activities and tools for Early Developing Symbol-sense
9. The Importance of Early Developing Symbol-sense
10. Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
11. Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood
12. RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod–Cone Dystrophy: Potential Founder Effect in Western Sicily
13. Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders
14. RP1 Dominant p.Ser740* Pathogenic Variant In 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Founder Effect in Western Sicily
15. 12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature
16. Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform
17. Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review
18. RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod–Cone Dystrophy: Potential Founder Effect in Western Sicily.
19. Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly
20. The EU Interreg Project “GEREMIA” on waste management for the improvement of port waters: results on monitoring the health status of fish as bioindicator
21. Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid
22. Integrating Fuzzy Logic and GIS Analysis to Assess Sediment Characterization within a Confined Harbour
23. Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1
24. Identification of novel mutations in L1CAM gene by a DHPLC-based assay
25. The influence of soccer shoes on plantar distribution in young players in a static condition: a pilot study
26. Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
27. Interstitial deletion of chromosome 2p15-16.1: Report of two patients and critical review of current genotype–phenotype correlation
28. Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
29. Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders
30. Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome
31. Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders
32. 12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature
33. Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability
34. Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome
35. Very early prenatal diagnosis of Cockayne’s syndrome by coelocentesis
36. Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients
37. Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid.
38. Value for Patient - risultati di un laboratorio applicativo di Value Based Healthcare per la gestione delle malattie da accumulo lisosomiale in 3 Regioni italiane.
39. Characterization of a complex rearrangement involving chromosomes 1, 4 and 8 by fish and array-CGH
40. Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders
41. Deletion of NSD1 exon 14 in Sotos syndrome: first description
42. Bipolar disorders and affective temperaments: A national family study testing the “endophenotype” and “subaffective” theses using the TEMPS-A Buenos Aires
43. Array CGH defined interstitial deletion on chromosome 14: a new case
44. A novel L1CAM mutation in a fetus detected by prenatal diagnosis
45. Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome
46. SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Down’s syndrome subjects with undescended testes
47. Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification
48. Atlante tematico: Trichomonas vaginalis : Cosa dovrebbe sapere esattamente un medico moderno di Trichomonas vaginalis
49. Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood
50. Elutriate preparation affects embryo development test with Paracentrotus lividus: An in-depth study on the differences between two protocols and three different sediment/water mixing times
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