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1. The Spasmodic Upper-body Squeeze: a Chalacteristic Behavior in Smith-Magenis Syndrome

3. Roentgen Findings in Mucolipidosis III (Pseudo- Hurler Polydystrophy)

4. The Sabinas syndrome

6. Health Supervision for People With Achondroplasia.

7. A height-for-age growth reference for children with achondroplasia: Expanded applications and comparison with original reference data.

8. A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay.

9. Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype.

10. Age-appropriate body mass index in children with achondroplasia: interpretation in relation to indexes of height.

11. Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts.

12. Weight for age charts for children with achondroplasia.

13. Cervical spinal stenosis in metatropic dysplasia.

14. HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

15. Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings.

16. Clinical, pathological and genetic features of women at high familial risk of breast cancer undergoing prophylactic mastectomy.

17. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL).

18. Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia.

19. Further delineation of cardiac abnormalities in Costello syndrome.

20. Complete SHOX deficiency causes Langer mesomelic dysplasia.

21. Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol.

23. Involvement of the humerus in two generations with spondyloepiphyseal dysplasia.

24. Hypercalciuria and urolithiasis in a case of Costello syndrome.

25. Medical complications of achondroplasia: a multicentre patient review.

26. Extended survival in a new case of ter Haar syndrome: further delineation of the syndrome.

27. Lateral meningocele syndrome: three new patients and review of the literature.

28. Sponastrime dysplasia: diagnostic criteria based on five new and six previously published cases.

29. Chiari malformation and tonsillar ectopia in twin brothers and father with autosomal dominant spondylo-epiphyseal dysplasia tarda.

30. Extending the spectrum of distal arthrogryposis.

31. Bilateral duplication of the primary ulnar ossification center in Ellis-van Creveld syndrome.

32. Sponastrime dysplasia: five new cases and review of nine previously published cases.

33. Standard weight for height curves in achondroplasia.

34. Standard curves of chest circumference in achondroplasia and the relationship of chest circumference to respiratory problems.

35. Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation.

36. 3-Year-old phenotypic female with campomelic dysplasia and bilateral gonadoblastoma.

37. Apparent mosaicism for del(17)(p11.2) ruled out by fluorescence in situ hybridization in a Smith-Magenis syndrome patient.

38. Genetic heterogeneity in multiple epiphyseal dysplasia.

39. Genetic homogeneity of cartilage-hair hypoplasia.

40. Aarskog-Scott syndrome: confirmation of linkage to the pericentromeric region of the X chromosome.

41. Phenotypic variability in the Baller-Gerold syndrome: report of a mildly affected patient and review of the literature.

42. The gene for achondroplasia maps to the telomeric region of chromosome 4p.

43. Orthopaedic manifestations in de Barsy syndrome.

44. The spasmodic upper-body squeeze: a characteristic behavior in Smith-Magenis syndrome.

45. Molecular analysis of the 18q- syndrome--and correlation with phenotype.

46. Inflammatory arthropathies in children with chromosomal abnormalities.

47. Eye abnormalities in the Smith-Magenis contiguous gene deletion syndrome.

48. Further delineation of spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type, with emphasis on diagnostic features.

49. Mosaicism for deletion 17p11.2 in a boy with the Smith-Magenis syndrome.

50. Carpal and tarsal osteolysis: an MRI, angiographic and histopathologic study.

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