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Article

CHIPS for genetic testing to improve a regional clinical genetic service.

Clinical genetics - 1 Aug 2015

Niida Y, Ozaki M, Inoue M, Takase E, Kuroda M, Mitani Y, Okumura A, Yokoi A, Fujita S, Yamada K

Abstract excerpt

In current practice of clinical genetics, molecular diagnosis has become more widely used than ever before. DNA diagnosis is important for appropriate medical care of the patient, and proper genetic counseling to the family. However, genetic testing of orphan disease cannot always be performed easily. In multiple congenital anomalies (MCA) syndromes by monogenic cause, the broad mutational spectrum and large size...

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PMID: 25046119
DOI: 10.1111/cge.12463

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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