Genomics and Radiogenomics in Inherited Neurometabolic Disorders – A Practical Primer for Pediatricians
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
http://link.springer.com/content/pdf/10.1007/s12098-019-02860-4.pdf
Reference40 articles.
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4. Xue Y, Ankala A, Wilcox WR, Hegde MR. Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing. Genet Med. 2015;17:444–51.
5. Fogel BI. Genetic and genomic testing for neurologic disease in clinical practice. In: Geschwind DH, Paulson HL, Klein C, editors. Handbook of Clinical Neurology, vol. 147 (3rd series), Neurogenetics, Part I. Amsterdam: Elsevier; 2018. p. 11–22.
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