30 results on '"Miano, Maria Giuseppina"'
Search Results
2. A Novel Splicing SCN2A Mutation in an Adolescent With Low-Functioning Autism, Acute Dystonic Movement Disorder, and Late-Onset Generalized Epilepsy
3. Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants
4. The Chromatin-Oxygen Sensor Gene KDM5C Associates with Novel Hypoxia-Related Signatures in Glioblastoma Multiforme
5. Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability
6. Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy
7. Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures
8. A reliable strategy for single-cell RNA sequencing analysis using cryoconserved primary cortical cells
9. Preservation of neurons in an AD 79 vitrified human brain
10. DNA Hypermethylation and Unstable Repeat Diseases: A Paradigm of Transcriptional Silencing to Decipher the Basis of Pathogenic Mechanisms
11. Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders
12. Insight intoIKBKG/NEMOLocus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease
13. A Regulatory Path Associated with X-Linked Intellectual Disability and Epilepsy Links KDM5C to the Polyalanine Expansions in ARX
14. Molecular Genetics of Incontinentia Pigmenti
15. Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms
16. Genetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region
17. The LCR at the IKBKG Locus Is Prone to Recombine
18. Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations
19. MRX87 family with Aristaless Xdup24bp mutation and implication for polyAlanine expansions
20. Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report
21. Multiple regulatory regions and tissue-specific transcription initiation mediate the expression of NEMO/IKKγ gene
22. Heterozygosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2–q28 associated with ovarian dysfunction
23. Mapping of MRX81 in Xp11.2-Xq12 suggests the presence of a new gene involved in nonspecific X-linked mental retardation
24. Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa
25. Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains
26. Human and mouse SYBL1 gene structure and expression
27. Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa
28. Complete congenital stationary night blindness maps on Xp11.4 in a Sardinian family
29. Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity
30. Construction of a pilot human YAC library in a recombination-defective yeast strain
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