Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes. [electronic resource]
Producer: 20151022Description: 347-53 p. digitalISSN:- 1476-5438
- Abnormalities, Multiple -- diagnosis
- Base Sequence
- Ectodermal Dysplasia -- diagnosis
- Exome
- Facies
- Failure to Thrive -- diagnosis
- Genetic Association Studies
- Genetic Testing
- Heart Defects, Congenital -- diagnosis
- High-Throughput Nucleotide Sequencing
- Humans
- Intracellular Signaling Peptides and Proteins -- chemistry
- Molecular Sequence Data
- Phenotype
- Reproducibility of Results
- Sequence Alignment
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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