A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield

Annals of Neurology

Volumn 77, Issue 2, 2015, Pages 206-214

  Ankala, Arunkanth ^a   Da Silva, Cristina ^a   Gualandi, Francesca ^b   Ferlini, Alessandra ^b   Bean, Lora J H ^a   Collins, Christin ^a   Tanner, Alice K ^a   Hegde, Madhuri R ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF FERRARA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DIAGNOSTIC TEST ACCURACY STUDY; DIAGNOSTIC VALUE; FALSE NEGATIVE RESULT; GENETIC ASSOCIATION; GENETIC SCREENING; HUMAN; MOLECULAR DIAGNOSIS; NEUROMUSCULAR DISEASE; NEXT GENERATION SEQUENCING; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; BIOLOGY; GENETICS; GENOMICS; NEUROMUSCULAR DISEASES; PROCEDURES;

COMPUTATIONAL BIOLOGY; GENETIC TESTING; GENOMICS; HUMANS; NEUROMUSCULAR DISEASES; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84922772691     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24303     Document Type: Article

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