42 results on '"Graham, John M."'
Search Results
2. Morphogenesis: Re: Clinical, natural history, and imaging information on patients included in reports
3. Spectrum of dolichospondylic dysplasia: Two new patients with distinctive findings
4. The mutational spectrum of brachydactyly type C
5. A recognizable syndrome within CHARGE association: Hall-Hittner syndrome
6. Cole‐Hughes macrocephaly syndrome and associated autistic manifestations
7. Blaschkolinear skin pigmentary variation due to trisomy 7 mosaicism
8. Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3
9. Familial lissencephaly with cleft palate and severe cerebellar hypoplasia
10. Clinical and behavioral characteristics in FG syndrome
11. Proteus syndrome: Diagnostic criteria, differential diagnosis, and patient evaluation
12. FG syndrome: Report of three new families with linkage to xq12-q22.1
13. Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene
14. Evaluation of mental retardation: Recommendations of a consensus conference
15. Deletions of 20p12 in Alagille syndrome: Frequency and molecular characterization
16. Immunodeficiency as a component of recognizable syndromes
17. Report from the workshop on Pallister-Hall syndrome and related phenotypes
18. Clinical and molecular studies in full trisomy 22: Further delineation of the phenotype and review of the literature. Reply to Dr. Robinson and Dr. Kalousek
19. Clinical and molecular studies in full trisomy 22: Further delineation of the phenotype and review of the literature. Reply to Dr. Hirschhorn
20. Transient leukemia with trisomy 21: Description of a case and review of the literature
21. Longitudinal observations on 15 children with Wiedemann-Beckwith syndrome
22. Clinical and molecular studies in full trisomy 22: Further delineation of the phenotype and review of the literature
23. Mixoploidy in humans: Two surviving cases of diploid-tetraploid mixoploidy and comparison with diploid-triploid mixoploidy
24. Papers on Brachmann-de Lange syndrome presented at the 12th annual David W. Smith workshop on morphogenesis and malformations
25. Congenital diaphragmatic hernia in the Brachmann‐de Lange syndrome
26. Radiological features in Brachmann-de Lange syndrome
27. Mild Brachmann-de Lange syndrome. Phenotypic and developmental characteristics of mildly affected individuals
28. Compromise of the spinal canal in Proteus syndrome
29. Radiological findings in Hallermann-Streiff syndrome: Report of five cases and a review of the literature
30. Congenital gastric teratoma in Wiedemann‐Beckwith syndrome
31. Central nervous system malformations in the CHARGE association
32. Microphthalmia and chorioretinal lesions in a girl with an Xp22.2‐pter deletion and partial 3p trisomy: Clinical observations relevant to aicardi syndrome gene localization
33. Atelosteogenesis type III: A distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II
34. Nuchal cystic hygroma in a fetus with presumed Roberts syndrome
35. Case report and delineation of the congenital hypothalamic hamartoblastoma syndrome (Pallister‐Hall syndrome)
36. Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader‐Willi syndrome
37. Familial t(4;21)(q2.4;q2.2) leading to an unbalanced offspring with the down syndrome
38. Cystic hamartomata of lung and kidney: A spectrum of developmental abnormalities
39. Acrocallosal syndrome: New findings
40. A cluster of Pallister-Hall syndrome cases, (congenital hypothalamic hamartoblastoma syndrome)
41. Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in the Prader‐Willi syndrome
42. Ring chromosome 12
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