35 results on '"Ferlini, Alessandra"'
Search Results
2. Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience
3. AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients
4. Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
5. Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family—causal or casual?
6. Recommendations for whole genome sequencing in diagnostics for rare diseases
7. Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network
8. EMQN best practice guidelines for genetic testing in dystrophinopathies
9. ADHD and Its Many Associated Problems
10. Erratum: Corrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice
11. Genetic Heterogeneity and Human Disease
12. Genetic counseling for women referred for advanced maternal age: a telegenetic approach
13. Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice
14. Patterns of late gadolinium enhancement in Duchenne muscular dystrophy carriers
15. Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3
16. Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-Terminal domain: a case report
17. Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype
18. The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy
19. Muscular dystrophy—something new on God's green earth?
20. DNA and ability to reproduce: the ‘Secret’ of evolution
21. Usefulness and limitations of 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy in the aetiological diagnosis of amyloidotic cardiomyopathy
22. Association of CYP1B1 with hypersensitivity induced by Taxane therapy in breast cancer patients
23. Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis
24. Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies
25. Research and applied medical genetics: filling the gap
26. A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies
27. Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs
28. Tempo and Mode of Evolution of a Primate-Specific Retrotransposon Belonging to the LINE 1 Family
29. Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females
30. The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy
31. Seven Novel Additional Small Mutations and a New Alternative Splicing in the Human Dystrophin Gene Detected by Heteroduplex Analysis and Restricted RT-PCR Heteroduplex Analysis of Illegitimate Transcripts
32. Haplotype analysis of common transthyretin mutations
33. Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study
34. Familial amyloidotic polyneuropathy: transthyretin (prealbumin) variants in kindreds of Italian origin
35. Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies
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