318 results on '"Sebastio G"'
Search Results
2. Genetic Analysis of Ion Transport
3. Isolation and Characterization of a Steroid Sulfatase cDNA Clone: Genomic Deletions in Patients with X-chromosome-Linked Ichthyosis
4. Cationic amino acid transport through system y+L in erythrocytes of patients with lysinuric protein intolerance
5. Clinical aspects of cystathionine β-synthase deficiency: how wide is the spectrum?
6. Mowat–Wilson Syndrome: Facial Phenotype Changing With Age: Study of 19 Italian Patients and Review of the Literature
7. Phenylketonuria in Italy: Distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene
8. Holt–Oram syndrome associated with anomalies of the feet
9. Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionineβ-synthase mutations
10. Incidence of ocular pathologies in Italian children with Down syndrome
11. Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome
12. Molecular analysis of patients affected by homocystinuria due to cystathionine β-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11
13. Royal academy of medicine in Ireland international conference on homocysteine metabolism from basic science to clinical medicine: Proceedings of meeting held at Dromoland Castle, Co. Clare on July 2nd–6th, 1995
14. Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene
15. Cloverleaf skull anomaly and de novo trisomy 4p
16. Slc7a7(-/-) mouse model develops Lysinuric Protein Intolerance immune related abnormalities
17. Genetic Analysis of Ion Transport
18. NON SPECIFIC BRONCHIAL HYPERREACTIVITY: EFFECT OF BUDESONIDE, SALMETEROL, SALBUTAMOL, NEDOCROMIL SODIUM : 588
19. Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B gene
20. Lung involvement, the ΔF508 mutation and DNA haplotype analysis in cystic fibrosis
21. ASPECIFIC BRONCHIAL HYPERREACTIVITY IN ALLERGIC RHINITIC PATIENTS: P 539
22. SALMETEROL VERSUS IPRATROPIUM BROMIDE IN PATIENTS WITH NOCTURNAL ASTHMA : PD 164
23. IMMUNOTHERAPY TO POLLEN ALLERGENS AND EFFECTS ON IgE, IgG AND SPECIFIC IgG
24. LEVEL OF TESTOSTERONE DURING CHRONIC THERAPY WITH SYSTEMIC OR TOPICAL STEROIDS
25. Spina bifida, 677T - >C mutation, and role of folate
26. Immune-related disorders in the LPI mouse
27. Is mosaicism at the origin of the extreme variability of 13q deletion phenotype?
28. Classical phenotype of trisomy 1q42-qter syndrome in a patient with an inv dup del (1)(pter [right arrow] q44::q44 [right arrow] q42:)
29. Molecular bases of the phenotypic variability of lysinuric protein intolerance
30. Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old woman
31. Osteoporosis in glycogen storage disease type 1 patients
32. Cystathionine ß-synthase mutations in homocystinuria
33. The Beckwith-Wiedemann Syndrome: genetic and epigenetic defects in bipartite cluster of imprintend genes
34. INNOVATIVE THERAPY WITH SODIUM-PHENYLBUTYRATE IN A PATIENT WITH LYSINURIC PROTEIN INTOLERANCE
35. New syndrome with generalized lipodystrophy and a distinctive facial appearance: Confirmation of Keppen-Lubinski syndrome?
36. Deletions of the steroid sulphatase gene in “classical” X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome
37. The 5′ end of the KCNQ10T1 gene is hypomethylated in the Beckwith-Wiedemann syndrome
38. Contribution of the cystathionine beta-synthase gene (844ins68) polymorphism to the risk of early-onset venous and arterial occlusive disease and of fasting hyperhomocysteinemia
39. Approccio clinico alle macrocranie non familiari: presentazione di una casistica di 21 pazienti
40. Structure of the SLC7A7 gene and mutational analysis of patients affected by Lysinuric Protein Intolerance
41. Relaxation of Insulin-like growth factor-2 imprinting and discordant methylation at KvDMR1 in two first-cousins affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber syndromes
42. Disorders of sulfur amino acid metabolism
43. SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance
44. SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein associated amino acid transporter family
45. Cystathionine beta-synthasemutations in homocystinuria
46. Smith-Lemli-Opitz syndrome evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutation
47. Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of D7-sterol reductase in Italy and report of three novel mutations
48. Clinical Features and molecular aspects of 15 italian patients with Mowat-Wilson syndrome
49. Elevated total plasmahomocysteine and 677C-->T mutation of the 5,10-methylenetetrahydrofolatereductase gene in thrombotic vascular disease
50. Homocysteine response to methionine challenge in fourobligate heterozygotes for homocystinuria and relationship with cystathioninebeta-synthase mutations
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