105 results on '"Ventruto, Valerio"'
Search Results
2. Difetti congeniti
3. Duplication of Yq- and proximal Yp-arms with deletion of almost all PAR1 (including SHOX) in a young man with non-obstructive azoospermia, short stature and skeletal defects
4. Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5
5. La genetica nell’infertilità maschile
6. Medicina dell’età prenatale
7. Heterozygosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2–q28 associated with ovarian dysfunction
8. Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity
9. Ocular signs associated with a rhodopsin mutation (Cys-167→Arg) in a family with autosomal dominant retinitis pigmentosa
10. MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions
11. Congenital megaurethra in a fetus with Meckel syndrome and in a fetus with female pseudoermanphroditism. The first report of these occurrences
12. Hemoglobin Lepore: Its significance for thalassemia and clinical manifestations
13. Hemoglobinopathies in Campania with particular reference to the rare and new types
14. Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness
15. H-Y Antigen: Expression in Human Subjects with the Testicular Feminization Syndrome
16. Malattie genetiche nella medicina prenatale
17. Difetti congeniti
18. Severe Myopia with Unusual Retinal Anomalies and Dandy-Walker Sequence in Two Sibs. A Distinct New Neuro-ocular Disorder
19. MRX87 family with Aristaless Xdup24bp mutation and implication for polyAlanine expansions
20. Heterozygosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2–q28 associated with ovarian dysfunction
21. Mapping of MRX81 in Xp11.2-Xq12 suggests the presence of a new gene involved in nonspecific X-linked mental retardation
22. A t(2;8) Balanced Translocation with Breakpoints Near the Human HOXD Complex Causes Mesomelic Dysplasia and Vertebral Defects
23. Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains
24. Congenital megaurethra in a fetus with Meckel syndrome and in a fetus with female pseudoermanphroditism. The first report of these occurrences.
25. Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa
26. The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32
27. Simultaneous occurrence of tetrasomy 21 and trisomy 8 in a patient with early blastic metamorphosis of chronic myeloproliferative disorder
28. A case of polimalformed fetus with a microdeletion of CTNNA3 gene.
29. Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity.
30. CFC syndrome: Report on three additional cases
31. Neu‐Laxova syndrome: Pathological, radiological, and prenatal findings in a stillborn female
32. Linkage of skeletal dysplasia gene to t(2;8)(q32;p13) chromosome translocation breakpoint
33. Ocular signs associated with a rhodopsin mutation (Cys-167 → Arg) in a family with autosomal dominant retinitis pigmentosa.
34. Cause non genetiche dell’infertilità maschile
35. Cause geniche dell’infertilità maschile
36. Cause cromosomiche dell’infertilità di coppia
37. Brevi richiami all’anatomia e alla fisiopatologia
38. Concetti di base e classificazione
39. Tossicodipendenze e gravidanza
40. Diagnosi prenatale: morale, deontologia e diritto
41. Cuore fetale normale e patologico
42. Malformazioni del sistema nervoso centrale
43. Malformazioni facciali
44. Screening prenatale, ecografico e biochimico di cromosomopatie
45. Anomalie scheletriche
46. Diagnostica prenatale dei difetti congeniti: tecniche invasive e non invasive
47. Idrope fetale non immunologica
48. Gravidanza ectopica
49. Farmaci e gravidanza
50. Restrizone della crescita fetale
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