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Volumn 126, Issue 1, 2019, Pages 1-5

The challenge of CDG diagnosis

Author keywords

CDG; Diagnosis; Molecular testing; MS; NGS; Whole Exome Sequencing

Indexed keywords

AWARENESS; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; DECISION TREE; GENETIC SCREENING; HEALTH CARE PERSONNEL; NOTE; PHENOTYPE; PRIORITY JOURNAL; THINKING; GLYCOSYLATION; HUMAN; MUTATION; PATHOLOGY; WHOLE EXOME SEQUENCING;

EID: 85056729645     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2018.11.003     Document Type: Note
Times cited : (82)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.