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