100 results on '"Ronchetto P"'
Search Results
2. Atypical presentation of Dent disease in a patient with interstitial Xp11.22 deletion
3. 17q23.3 de novo microdeletion involving only TANC2 gene: A new case
4. Effects of iron concentration and redox states on failure of boron-free E-glass fibres under applied stress in different conditions
5. Effect of aging on the failure characteristics of E-glass fibers
6. Using the Looking Glass at the International Center for Public Enterprises in Slovenia: Implications for Teaching Interpersonal Skills and Introducing International Business Concepts.
7. Interstitial deletion 14q31.1q31.3 transmitted from a mother to her daughter, both with features of hemifacial microsomia
8. LMX1B haploinsufficiency due to variants in the 5’UTR as a cause of Nail-Patella syndrome
9. SILICOSIS: THE GREAT MIMICKER
10. REASSESSMENT OF SHORT-TERM OXYGEN THERAPY IN ACUTE COPD EXACERBATIONS: A SINGLE-CENTER RETROSPECTIVE STUDY
11. LEGION(ELLA) OF DOOM: A RARE TRIAD OF LEGIONNAIRE'S DISEASE, RHABDOMYOLYSIS, AND KIDNEY INJURY
12. GROUP II PULMONARY HYPERTENSION IN THE SETTING OF VIRAL CARDIOMYOPATHY
13. LEGIONELLA PNEUMONIA-ASSOCIATED SMALL BOWEL INTUSSUSCEPTION
14. DNA Technology for Prenatal Diagnosis of Cystic Fibrosis in Italy
15. Frequency of Cystic Fibrosis Mutations and Associated Haplotype Distribution in Slovak CF Patients
16. Phenotypic Spectrum revealed by two hits model mechanism in Neurodevelopmental Disorder patients with Syndromic and Recurrent CNVs
17. Scoliosis with cognitive impairment in a girl with 8q11.21q11.23 microdeletion and SNTG1 disruption
18. Frequency of the ΔF508 mutation in a sample of 175 Italian cystic fibrosis patients
19. Hiv, povertà e disuguaglianze Scenari epidemiologici e sociali di una pandemia asimmetrica.
20. Preliminary results on the frequency of the ΔF508 mutation in cystic fibrosis patients from the USSR
21. Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution
22. No Evidence for Segregation Distortion of Cystic Fibrosis Alleles among Sibs of Cystic Fibrosis Patients
23. One gene-different disorders:structure,orientation,genomic map and mutations of RET which cause Hirschsprung disease as well as MEN2B, and FMTC
24. Condition for SSCP analysis, common polymorphisms and mutations of the RET protooncogene in Hirschsprung patients
25. DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the RET proto-oncogene
26. Point mutations affecting the tyrosine kinase domain of the RET proto-oo-oncogene in Hirschsprung patients
27. DNA polymorphisms and condition for SSCP analysis of the 20 exons of the RET proto-oncogene
28. Phenotypic intrafamilial heterogeneity in cystic fibrosis
29. Frequency of cystic fibrosis mutations and associated haplotype distribution in Slovak CF patients. In L.-C. Tsui, G.Romeo, R.Greger, S.Gorini, Eds.: The identification of the CF gene: recent progress and new research strategies
30. Analysis of delta F508 does not confirm a previously reported recombination in a cystic fibrosis family
31. Preliminary results on the frequency of the deltaF508 mutation in cystic fibrosis patients from the USSR
32. Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution
33. Informativity of intragenic microsatellites for carrier detection and prenatal diagnosis of cystic fibrosis in the Italian population
34. Using the Looking Glass at the International Center for Public Enterprises in Slovenia
35. The Effects Of Variations In The Photocathode Voltages Of Electronic Streak Cameras
36. Screening for non-deltaF508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy
37. DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-ocogene
38. Multiple heterozygous copy number variants (CNVs) with potential additive effect in patients affected by neurodevelopmental disorders (NDD)
39. Analysis of ΔF508 does not confirm a previously reported recombination in a cystic fibrosis family
40. Interstitial 2q24.2q24.3 microdeletion: description of two new cases and delineation of the critical minimal region. A new emerging syndrome?
41. DNA technology for prenatal diagnosis of cystic fibrosis in Italy
42. Frequency of cystic fibrosis mutations among Italian patients
43. Preliminary results on cystic fibrosis haplotypes from patients diagnosed in Odessa
44. DNA POLYMORPHISMS AND CONDITIONS FOR SSCP ANALYSIS OF THE 20 EXONS OF THE RET PROTOONCOGENE
45. Frequency of cystic fibrosis mutations and associated haplotype distribution in Slovak CF patients
46. Intragenic Microdeletion of ULK4 and Partial Microduplication of BRWD3 in Siblings with Neuropsychiatric Features and Obesity
47. Evaluation of CNVs variants in a cohort of isolated and syndromic intellectual disability/autism spectrum disorders reveals novel position effects and candidate disease genes
48. Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children
49. Phenotypic intrafamilial heterogeneity in cystic fibrosis.
50. Linearizing the Bottom Channels of the 256‐Channel Pulse‐Height Analyzer
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