39 results on '"Melchionda, Salvatore"'
Search Results
2. #5542 THE ITALIAN REGISTRY OF POLYCYSTIC KIDNEY DISEASE (RIRP): DESIGN, PATIENT CHARACTERISTICS AND INITIAL RESULTS
3. EYA1-related disorders: Two clinical cases and a literature review
4. Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis
5. Compound Heterozygosity for OTOA Truncating Variant and Genomic Rearrangement Cause Autosomal Recessive Sensorineural Hearing Loss in an Italian Family
6. Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4)
7. Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss. (Report)
8. Connexin-26 mutations in sporadic and inherited sensorineural deafness
9. Pathogenetic role of the deafness-related M34T mutation of Cx26
10. Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing
11. MYO6, the Human Homologue of the Gene Responsible for Deafness in Snell's Waltzer Mice, Is Mutated in Autosomal Dominant Nonsyndromic Hearing Loss
12. Analisi di mutazione in soggetti con sospetta sindrome di Pendred
13. Patient affected by neurofibromatosis type 1 and thyroid C-cell hyperplasia harboring pathogenic germ-line mutations in both NF1 and RET genes
14. Could the interaction between LMX1Band PAX2influence the severity of renal symptoms?
15. Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss
16. A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family
17. Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort
18. Are MYO1C and MYO1F associated with hearing loss?
19. Genotyping of spinal muscular atrophy families with linked DNA probes
20. Screening of neurofibromatosis type 1 gene: identification of a large deletion and of an intronic variant
21. Functional characterization of a novel Cx26 (T55N) mutation associated to non-syndromic hearing loss
22. Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment
23. Multiple Mutations ofMYO1A, a Cochlear-Expressed Gene, in Sensorineural Hearing Loss
24. A new locus (DFNA47) for autosomal dominant non-syndromic inherited hearing loss maps to 9p21-22 in a large Italian family
25. Hearing loss: frequency and functional studies of the most common connexin26 alleles
26. A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families
27. Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1mutations by sanger sequencing and MLPA analysis
28. Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
29. Linkage analysis in two large Italian pedigrees affected with nail patella syndrome
30. Localisation of the Fanconi anaemia complementation group A gene to chromosome 16q24.3
31. Transposition of the great arteries associated with deletion of chromosome 22q11
32. A tool for the molecular analysis of an early lethal disease: slide-PCR in spinal muscular atrophy patients
33. Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment.
34. High carrier frequency of the 35delG deafness mutation in European populations.
35. Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.
36. Connexin26 Mutations Associated with the Most Common Form of Non-Syndromic Neurosensory Autosomal Recessive Deafness (DFNB1) in Mediterraneans.
37. Screening of neurofibromatosis type 1 gene: identification of a large deletion and of an intronic variant.
38. Genotyping of spinal muscular atrophy families with linked DNA probes.
39. Are MYO1C and MYO1F associated with hearing loss?
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