14 results on '"Ropers H"'
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2. High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease
3. Breakpoints around the HOXD cluster result in various limb malformations
4. Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate
5. Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation
6. Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13)
7. Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation
8. A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation
9. Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome
10. Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes
11. Localisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26.
12. Close linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologically normal and abnormal families.
13. Presymptomatic diagnosis of myotonic dystrophy.
14. A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region.
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