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20 results on '"PArtington, M."'

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1. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.

2. 9th international workshop on fragile X syndrome and X-linked mental retardation.

3. Genes on the X chromosome are important in undiagnosed mental retardation.

4. Another dystonia.

5. PAK3 mutation in nonsyndromic X-linked mental retardation.

6. Regional localisation of two non-specific X-linked mental retardation genes (MRX30 and MRX31).

7. Localisation of the gene for X-linked reticulate pigmentary disorder with systemic manifestations (PDR), previously known as X-linked cutaneous amyloidosis.

8. Construction of a high-resolution linkage map for Xp22.1-p22.2 and refinement of the genetic localization of the Coffin-Lowry syndrome gene.

9. X-linked mental retardation with dystonic movements of the hands (PRTS): revisited.

10. Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.

11. Fragile X syndrome without CCG amplification has an FMR1 deletion.

13. Non-specific X linked mental retardation.

14. X-linked short stature with skin pigmentation: evidence for heterogeneity of the Russell-Silver syndrome.

15. A new syndrome with mental retardation, short stature and an Xq duplication.

17. A family with the Coffin Lowry syndrome revisited: localization of CLS to Xp21-pter.

18. Genetic mapping of DNA segments relative to the locus for the fragile-X syndrome at Xq27.3.

19. X-linked cutaneous amyloidosis: further clinical and pathological observations.

20. X-linked mental retardation with dystonic movements of the hands.

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