16 results on '"Shaffer, Lisa"'
Search Results
2. Defining the impact of maternal cell contamination on the interpretation of prenatal microarray analysis
3. Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A
4. NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype
5. Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems
6. Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders
7. Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories
8. Genotype–phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations
9. Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH
10. Microarray analysis for constitutional cytogenetic abnormalities
11. The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome
12. Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH
13. American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation
14. American College of Medical Genetics Statement on Diagnostic Testing for Uniparental Disomy
15. Response to Benn
16. Response to the letter by Collins and Schimke
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