20 results on '"DuPont, Barbara R."'
Search Results
2. The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development
3. Sleep disturbances in Phelan‐McDermid syndrome: Clinical and metabolic profiling of 56 individuals
4. Multi‐tissue cytogenetic analysis for the diagnosis of mosaic Down syndrome: A case report
5. A SOX3 duplication and lumbosacral spina bifida in three generations
6. Importance of genetic testing in global health during the evaluation of familial microcephaly
7. Neurodevelopmental delays and macrocephaly in 17p13.1 microduplication syndrome
8. Clinical utility of the X-chromosome array
9. Growth in Phelan-McDermid syndrome
10. Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature
11. Differential diagnosis of Smith–Magenis syndrome: 1p36 deletion syndrome
12. Autism in two females with duplications involving Xp11.22-p11.23
13. 47, XY, +der(Y),t(X;Y)(p21.1;p11.2): A unique case of XY sex reversal
14. Intellectual disability, midface hypoplasia, facial hypotonia, and alport syndrome are associated with a deletion in Xq22.3
15. Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q
16. Chromosome 18q paracentric inversion in a family with mental retardation and hearing loss
17. Interstitial duplication 19p
18. Pallister‐Killian and Fryns syndromes
19. Interstitial Duplication of 7(q22→q34)
20. Trisomy 22 confirmed by fluorescent in situ hybridization
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