338 results on '"Briuglia, Silvana"'
Search Results
2. Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A
3. A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review
4. DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7
5. Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy
6. Molecular Pathways within Autism Spectrum Disorder Endophenotypes
7. CNVs inform the biological network of Autism spectrum disorder
8. Bidirectional Ventricular Tachycardia and Prominent U Waves: Look at Fingers and Muscles and Use Flecainide
9. Loss-of-function variants in ERFare associated with a Noonan syndrome-like phenotype with or without craniosynostosis
10. Correspondence on “Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies” by Fountain et al.
11. Genetic analysis of the human insulin-like 3 gene in pediatric patients with testicular torsion
12. Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis
13. Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy
14. A Systematic Review and Meta-Analysis of the Association between the FV H1299R Variant and the Risk of Recurrent Pregnancy Loss
15. Body weight changes and bipolar disorder: a molecular pathway analysis
16. H1299R Variant in Factor V and Recurrent Pregnancy Loss: A Systematic Review and Meta-Analysis Protocol
17. Genetic findings in early miscarriage analysis by Chromosomal Microarray and Whole Exome Sequencing
18. 12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature
19. Neurofibromatosis: New Clinical Challenges in the Era of COVID-19
20. Osteogenesis Imperfecta/Ehlers–Danlos Overlap Syndrome and Neuroblastoma—Case Report and Review of Literature
21. Autoimmune hepatitis in genetic syndromes: A literature review
22. Suicide Related Phenotypes in a Bipolar Sample: Genetic Underpinnings
23. Heterozygous and homozygous variants in STX1Acause a neurodevelopmental disorder with or without epilepsy
24. TU24. SUICIDE RELATED PHENOTYPES IN A BIPOLAR SAMPLE: GENETIC UNDERPINNINGS
25. Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily
26. A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity
27. Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects
28. 8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature
29. Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)
30. Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis‐van Creveld syndrome caused by hypomorphic mutations in the EVC gene
31. Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation
32. Seizures and epilepsy in Sotos syndrome: Analysis of 19 Caucasian patients with long-term follow-up
33. Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function
34. Comorbidity between progressive familial intrahepatic cholestasis and atopic dermatitis in a 19-month-old child
35. Apparent Third Patient With Cutaneous Mastocytosis, Microcephaly, Conductive Hearing Loss, and Microtia
36. Increased protein carbonyl groups in the serum of patients affected by thalassemia major
37. Report of a Third Family With Oliver Syndrome
38. Cutis laxa in Kabuki make-up syndrome
39. Clinical delineation of 18q11‐q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects
40. Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation
41. FTL c.-168G>C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: A New Italian Family
42. Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis?
43. A mitochondrial DNA mutation (A3243G mtDNA) in a family with cyclic vomiting
44. Autoimmune liver disease in Noonan Syndrome
45. Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily
46. Autism features and microdeletion on chromosome 14q23.3 involving PLEKHG3 gene
47. Proteus syndrome: evaluation of the immunological profile
48. Bassa statura e sindromi genetiche
49. Idiopathic Intracranial Hypertension: a unifying neuroendocrine hypothesis is possible?
50. Idiopathic intracranial hypertension in children: A review of traditional theories and newer approaches to management
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