31 results on '"Fabiano, Carmelo"'
Search Results
2. A genotype–phenotype correlation in Sicilian patients with GJB2 biallelic mutations
3. Identification of D179H, a novel missense GJB2 mutation in a Western Sicily family
4. Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome
5. Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia
6. Persistent Jaundice in An Infant With Homozygous Beta Thalassemia Due To Co-Inherited Crigler-Najjar Syndrome
7. Glucose 6-phosphate dehydrogenase Palermo R257M: a novel variant associated with chronic non-spherocytic haemolytic anaemia
8. A novel nonsense mutation in exon 2 of the factor IX gene resulting in severe haemophilia B
9. Hepatitis C virus infection as a determinant of behavior in type 1 autoimmune hepatitis
10. MTHFR C677T homozygous as risk factor for complications after OLT for cryptogenic cirrhosis
11. Long-term course of interferon-treated chronic hepatitis C
12. HCV viraemia is more important than genotype as a predictor of response to interferon in Sicily (Southern Italy)
13. Frequency of thiopurine methyltransferase mutation in patients of Mediterranean area with inflammatory bowel disease and autoimmune disorders
14. The role of polymorphisms of thiopurine methyltransferase in therapy with Azathioprine: preliminary study
15. Trouble always comes in threes: three mutations for three auto inflammatory genes in a child and in his father
16. A genotype–phenotype correlation in Sicilian patients with GJB2 biallelic mutations
17. Identification of D179H, a novel missense GJB2 mutation in a Western Sicily family
18. A C1-inhibitor rare mutation: Early diagnosis of hereditary angioedema in a paediatric patient
19. Persistent jaundice in an infant with homozygous beta thalassemia due to co-inherited Crigler-Najjar syndrome
20. Acalculous cholecystitis during the course of acute Epstein–Barr virus infection and Gilbert's syndrome
21. Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome
22. Familial mediterranean fever gene (MEVF) mutations in Crohnʼs disease in a Mediterranean area
23. Identification of a new nonsense mutation (Tyr129Stop) of the SRY gene in a newborn infant with XY sex‐reversal
24. HCV NS5A mutations in europeans infected by genotype 1b
25. A randomized controlled trial of high-dose maintenance interferon therapy in chronic hepatitis C
26. Hepatitis C viremia in chronic liver disease: Relationship to interferon-α or corticosteroid treatment
27. Third-generation hepatitis C virus tests in asymptomatic anti-HCV-positive blood donors
28. Hepatitis C virus replication in ‘autoimmune’ chronic hepatitis
29. Smouldering hepatitis B virus replication in patients with chronic liver disease and hepatitis delta virus superinfection
30. Novel human pathological mutations. Gene symbol: F8. Disease: Haemophilia A.
31. Novel human pathological mutations. Gene symbol: F8. Disease: Haemophilia A.
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