131 results on '"Bertola D"'
Search Results
2. Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II)
3. A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability
4. Two novel pathogenic variants in MED13L : one familial and one isolated case
5. Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II)
6. Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship?
7. A Possible Role of Different PTPN Genes in Immune Regulation
8. Angiokeratoma: a cutaneous marker of Fabry’s disease
9. Brachyolmia With Amelogenesis Imperfecta: Further Evidence of a Distinct Entity
10. New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder–Robinson X-linked recessive mental retardation syndrome
11. High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation
12. Marrow aplasia in a child with mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome)
13. Molecular evidence that AEC syndrome and Rapp–Hodgkin syndrome are variable expression of a single genetic disorder
14. AEC Syndrome and CHAND Syndrome: Further Evidence of Clinical Overlapping in the Ectodermal Dysplasias
15. Infantile sialic acid storage disease: report of the first case in South America
16. Clinical and molecular aspects of 25 Brazilian Friedreich's patients
17. Ocular anomalies in 22 Brazilian patients with Williams-Beuren syndrome
18. Noonan-like/multiple giant cell lesion syndrome: a separate entity from Noonan syndrome?
19. Assessment of Intellectual and Visuo Spatial Abilities in Children and Adults with Williams Syndrome
20. Richieri‐Costa‐Pereira syndrome: Expanding its phenotypic and genotypic spectrum.
21. Hypercoagulable State In Young Italian Patients (<55yrs) With Central Retinal Vein Thrombosis
22. Assessment of Intellectual and Visuo-Spatial Abilities in Children and Adults with Williams Syndrome
23. A DominantABCC8-Related Hyperinsulinism: Familial Case ReportMoreiraet al.ABCC8-Related Hyperinsulinism
24. Angiokeratoma: a cutaneous marker of Fabry’s disease
25. Clinical variability in a Noonan syndrome family with a newPTPN11 gene mutation
26. Are Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome distinct entities?
27. Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases
28. Assessment of Intellectual and Visuo-Spatial Abilities in Children and Adults with Williams Syndrome.
29. Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations.
30. CHILD Syndrome Caused by a Deletion of Exons 6–8 of the NSDHL Gene.
31. P2.11 A new form of myopathy associated with muscle hypertrophy, short stature, macroglossia and brachydactyly
32. A Dominant ABCC8-Related Hyperinsulinism: Familial Case ReportMoreira et al. ABCC8-Related Hyperinsulinism.
33. AN ADVERSE IMMUNE-ENDOCRINE PROFILE IN PATIENTS WITH TUBERCULOSIS AND TYPE 2 DIABETES.
34. MUCOPOLYSSACCHARIDOSES TYPE IV: CASE OF A PATIENT WITH HUMORAL RESPONSE DEFICIENCY
35. NATURAL KILLER CELL DEFICIENCY IN PATIENTS WITH MUCOPOLYSACCHARIDOSES
36. Infantile sialic acid storage disease: Report of the first case in South America [3]
37. AN ADVERSE IMMUNE-ENDOCRINE PROFILE IN PATIENTS WITH TUBERCULOSIS AND TYPE 2 DIABETES.
38. Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries
39. PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity.
40. Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries.
41. Scedosporium boydii finding in an immunocompromised patient and review of the literature.
42. Childhood Hypophosphatasia Associated with a Novel Biallelic ALPL Variant at the TNSALP Dimer Interface.
43. Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients.
44. Vertebral segmentation defects in a Brazilian cohort: Clinical and molecular analysis focused on spondylocostal dysostosis.
45. Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant.
46. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
47. Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.
48. Development of a comprehensive noninvasive prenatal test.
49. Complexity of the 5' Untranslated Region of EIF4A3 , a Critical Factor for Craniofacial and Neural Development.
50. Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.
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