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323 results on '"Carter, Nigel P."'

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6. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

7. Genome Sequencing and Analysis of the Tasmanian Devil and Its Transmissible Cancer

9. Massive Genomic Rearrangement Acquired in a Single Catastrophic Event during Cancer Development

10. Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome

11. Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

13. Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome

14. Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

18. Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21

20. Origins and functional impact of copy number variation in the human genome

23. Adaptive evolution of UGT2B17 copy-number variation

24. Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16

29. Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

30. Completing the map of human genetic variation

31. Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction

36. Global variation in copy number in the human genome

39. Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination

40. The DNA sequence of the human X chromosome

42. Chromatin architecture of the human genome: gene-rich domains are enriched in open chromatin fibers

43. The zebrafish reference genome sequence and its relationship to the human genome

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