197 results on '"Lerone M"'
Search Results
2. Diagnostic and therapeutic approach to multiple endocrine neoplasia type 2B in pediatric patients
3. Prevention strategies for severe hemoglobinopathies in endemic and nonendemic immigration countries: the Latium example
4. Response to Klinger and Merlob re: Case Description With Review of the Literature. Am J Med Genet Part A 149A:1597–1602, 2009
5. Search for pathogenetic variants of the SPRY2 gene in intestinal innervation defects
6. Genotype-phenotype correlation and germline mosaicism in DMD/BMD patients with deletions of the dystrophin gene
7. Single nucleotide polymorphic alleles in the 5′ region of the RET proto-oncogene define a risk haplotype in Hirschsprung’s disease
8. Ectodermal dysplasias: not only 'skin' deep
9. Symbrachydactyly involving both the hand and foot
10. Lower extremity counterpart of the Poland syndrome
11. Association of multiple endocrine neoplasia type 2 and Hirschsprung disease
12. Associated anomalies in intestinal neuronal dysplasia
13. Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10
14. Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations
15. A new syndrome with cerebro-oculo-skeletal-renal involvement
16. Scoliosis with cognitive impairment in a girl with 8q11.21q11.23 microdeletion and SNTG1 disruption
17. An MspI polymorphism in the X-specific region proximal to the pseudoautosomal boundary. A new example of a unique “African” marker?
18. Leiomyomatosis of oesophagus, congenital cataracts and hematuria: Report of a case with rectal involvement
19. Multiple sutural synostosis and congenital cataracts
20. Multiple Endocrine Neoplasia type 2B and RET proto-oncogene
21. A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia
22. Current genetic epidemiology of β-thalassaemias and other haemoglobin disorders in the Latium region (Italy) following recent migration movements
23. Poland syndrome with bilateral features: case description with review of the literature
24. PITUITARY HYPOPLASIA AND GROWTH HORMONE DEFICIENCY IN COFFIN-SIRIS SYNDROME
25. Molecular characterization of a T(2;6) balaced translocation associated with complex phenotype and leading to the truncation of the TCBA1 gene
26. Auricolo-condylar syndrome or new syndrome?
27. New clinical findings in oculo-ecNew clinical findings in oculo-ectodermal syndrome
28. Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene
29. Pathogenesis of Hirschsprung's disease
30. The FG Syndrome -Reports of 2 cases and Rewiew of the Literature
31. What is the best diagnostic protocol for the study of Hirschsprung phenotype?
32. Update on molecular genetic research on Hirschsprung's disease
33. Anorectal malformations associated with sacral hypodevelopment: a spectrum of anomalies controlled by the same gene?
34. Frequency of RET mutations in long and short segment Hirschsprung disease
35. RET proto-oncogene mutation screening in intestinal dysganglionosis
36. Neuronal Intestinal Dysplasia-Malrotation-Short Bowel syndrome (NMSBS). clinical, histochemical and genetic study
37. Detection of RET mutations in higher among long segment than short segment Hirschsprung patients
38. One gene: different disorders: the concept of phenotype diversity due to allelic series
39. One gene-different disorders:structure,orientation,genomic map and mutations of RET which cause Hirschsprung disease as well as MEN2B, and FMTC
40. Condition for SSCP analysis, common polymorphisms and mutations of the RET protooncogene in Hirschsprung patients
41. Mapping and identification of a candidate gene for Hirschsprung disease:a review
42. Point mutations affecting the tyrosine kinase domain of the RET proto-oo-oncogene in Hirschsprung patients
43. A gene for Hirshsprung disease maps to the proximal long arm of chromosome 10
44. Total colonic aganglionosis associated with an interstitial deletion of the long arm of chromosome 10. Molecular characterization of the region and family studies
45. Recent advances in the study of birth defects
46. Hand and upper limb anomalies in poland syndrome: a new proposal of classification.
47. Neuronal Intestinal Dysplasia: Clinical Experience in Italian Patients.
48. ICF syndrome with variable expression in sibs.
49. A screening programme for the prospective prevention of Mediterranean anaemia in Latium: results of seven years' work.
50. Screening of thalassaemia carriers in intermediate school of Latium: results of four years' work.
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