36 results on '"Azzarà, Alessia"'
Search Results
2. A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer?
3. Identification of new candidate genes for spina bifida through exome sequencing
4. A new gene for autosomal dominant facial palsy/migraine identified in a family by whole exome sequencing
5. A new gene for autosomal dominant facial palsy/migraine identified in a family by whole exome sequencing.
6. Melkersson–Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants?
7. Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome
8. Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability
9. Identification by Exome Sequencing of Predisposing Variants in Familial Cases of Autoinflammatory Recurrent Fevers
10. Maternal Epigenetic Dysregulation as a Possible Risk Factor for Neurodevelopmental Disorders
11. RADX Gene Variant May Predispose to Familial Asperger Syndrome
12. Whole exome sequencing identifies a rare variant in MAS1 gene in a subject with lethal COVID-19
13. Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype–Phenotype Correlations
14. Genetic Characterization in Familial Rotator Cuff Tear: An Exome Sequencing Study
15. Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families
16. Genetic Dysruption of the Histaminergic Pathways: A Novel Deletion at the 15q21.2 locus Associated with Variable Expressivity of Neuropsychiatric Disorders
17. 3p26.3 terminal deletions: a challenge for prenatal genetic counseling
18. Genotype–Phenotype Correlations in Relation to Newly Emerging Monogenic Forms of Autism Spectrum Disorder and Associated Neurodevelopmental Disorders: The Importance of Phenotype Reevaluation after Pangenomic Results
19. Results of a Gene Panel Approach in a Cohort of Patients with Incomplete Distal Renal Tubular Acidosis and Nephrolithiasis
20. Kinetics of nuclear phosphorylation (γ-H2AX) in human lymphocytes treated in vitro with UVB, bleomycin and mitomycin C
21. Assessing the cytotoxic/genotoxic activity and estrogenic/antiestrogenic potential of essential oils from seven aromatic plants
22. Role of oxidative stress, genome damage and DNA methylation as determinants of pathological conditions in the newborn: an overview from conception to early neonatal stage
23. Results of a Gene Panel Approach in a Cohort of Patients with Incomplete Distal Renal Tubular Acidosis and Nephrolithiasis.
24. Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of FOXL2 and Review of the Literature
25. Increased level of DNA damage in some organs of obese Zucker rats by γ-H2AX analysis
26. Biological Effects of Saponin Fractions from Astragalus verrucosus in Tumor and Non-tumor Human cells
27. Increased level of DNA damage in some organs of obese Zucker rats by γ-H2AX analysis
28. Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?
29. A Case of 22q11 Deletion Syndrome (22q11DS) with a Panayiotopoulos Epileptic Pattern: Are Additional Copy-Number Variations a Possible Second Hit in Modulating the 22q11DS Phenotype?
30. Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation
31. Different repair kinetic of DSBs induced by mitomycin C in peripheral lymphocytes of obese and normal weight adolescents
32. Vincristine-induced bystander effect in human lymphocytes
33. Rare missense variants in the ALPK1gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome
34. Transcriptional Alterations of ET-1 Axis and DNA Damage in Lung Tissue of a Rat Obesity Model
35. Biological Effects of Saponin Fractions from Astragalus verrucosusin Tumor and Non-tumor Human cells
36. Role of oxidative stress, genome damage and DNA methylation as determinants of pathological conditions in the newborn: an overview from conception to early neonatal stage.
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.