41 results on '"Tenconi, R"'
Search Results
2. Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome
3. Inheritance of hyperbilirubinemia: Evidence for a major autosomal recessive gene
4. Paternal origin of LMNA mutations in Hutchinson–Gilford progeria
5. Chromosomal congenital anomalies and residence near hazardous waste landfill sites
6. Detection of Congenital Anomalies by Fetal Ultrasonographic Examination across Europe
7. Nine novel APC mutations in Italian FAP patients
8. Evaluation of the prenatal diagnosis of neural tube defects by fetal ultrasonographic examination in different centres across Europe
9. Neurofibromatosis type 1 growth charts
10. CD4 and CD8 T lymphocyte inheritance. Evidence for major autosomal recessive genes
11. CD4 and CD8 T lymphocyte inheritance. Evidence for major autosomal recessive genes
12. Down Syndrome and Parity
13. Risk of congenital anomalies near hazardous-waste landfill sites in Europe: the EUROHAZCON study
14. Anesthesiologic problems in Williams syndrome: the CACNL2A locus is not involved
15. Stüve-Wiedemann dysplasia in a 3 1/2-year-old boy
16. Stüve‐Wiedemann dysplasia in a 3 1/2‐year‐old boy
17. Headache in Patients With Neurofibromatosis Type 1
18. Lethal multiple pterygium syndrome: Importance of fetal physical examination
19. Amniotic band sequence in child of thalidomide victim
20. 766 cases of oral cleft in Italy
21. Clusters of anophthalmia: No link with benomyl in Italy..
22. A new disease-causing mutation in the GAP-related domain of the NF1 gene
23. Omphalocele and gastroschisis: A collaborative study of five Italian congenital malformation registries
24. Association between holoprosencephaly and exposure to topical retinoids: results of the EUROCAT survey
25. Association between holoprosencephaly and exposure to topical retinoids: results of the EUROCAT survey
26. How wide is the clinical spectrum of the acrocallosal syndrome? Report of a mild case.
27. Pachyonychia congenita Jackson-Lawler type: a distinct malformation syndrome
28. FAMILIAL 4/22 TRANSLOCATION WITH PARTIAL TRISOMY FOR THE SHORT ARM OF CHROMOSOME 4 IN TWO SIBS
29. The ?Cat Eye syndrome?: Dicentric small marker chromosome probably derived from a No. 22 (Tetrasomy 22pter?q11) associated with a characteristic phenotype
30. Chorioretinal coloboma and joubert syndrome: A nonrandom association
31. Frequency of consanguineous marriages among parents and grandparents of Down patients
32. Trisomy 4q32 leads to 4qter due to a maternal 4/21 translocation.
33. Enhancing Effect of Low Frequency Pulsed Electromagnetic Fields on Lectin-Induced Human Lymphocyte Proliferation
34. Aortic Elastin Abnormalities in Osteogenesis Imperfecta Type II
35. Replication patterns of human X isochromosomes by high-resolution banding
36. Theoretical recurrence risks for cleft lip derived from a population of consecutive newborns.
37. Glycogenosis type II: Glycogen storage in cell cultures from muscle
38. METHYLMALONIC ACIDEMIA AND VITAMIN B12 DEPENDENCY
39. A New Case of Trisomy for the Short Arm of No. 9 Chromosome
40. ACID PHOSPHATASE IN SPLEEN TISSUE-CULTURE IN GAUCHER'S DISEASE
41. Metachromasia in cultured fibroblasts of subjects with glycogenosis type II
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