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Volumn 261, Issue 6, 2014, Pages 1244-1246
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Applications of next-generation whole exome sequencing
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Author keywords
[No Author keywords available]
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Indexed keywords
4 AMINOBUTYRIC ACID A RECEPTOR ALPHA1;
BRCA1 PROTEIN;
MITOCHONDRIAL DNA;
4 AMINOBUTYRIC ACID A RECEPTOR;
CARRIER PROTEIN;
MUNC18 PROTEIN;
ARTICLE;
DOORS SYNDROME;
EXOME;
EXON;
GENE MUTATION;
GENETIC ASSOCIATION;
HEARING IMPAIRMENT;
HUMAN;
INHERITED POLYNEUROPATHY;
INTELLECTUAL IMPAIRMENT;
NAIL DYSTROPHY;
NEUROLOGIC DISEASE;
NEXT GENERATION SEQUENCING;
OPTIC NERVE ATROPHY;
OSTEODYSTROPHY;
PHENOTYPE;
POLYNEUROPATHY;
PRIORITY JOURNAL;
SEIZURE;
SEVERE MYOCLONIC EPILEPSY IN INFANCY;
SPASTIC PARAPLEGIA;
SYNDROME;
CRANIOFACIAL MALFORMATION;
DNA SEQUENCE;
FEMALE;
GENETIC PREDISPOSITION;
GENETICS;
HAND MALFORMATION;
INTERNATIONAL COOPERATION;
MALE;
MUTATION;
MYOCLONUS EPILEPSY;
NAIL DISEASE;
PERCEPTION DEAFNESS;
PROCEDURES;
CARRIER PROTEINS;
CRANIOFACIAL ABNORMALITIES;
EPILEPSIES, MYOCLONIC;
EXOME;
FEMALE;
GENETIC PREDISPOSITION TO DISEASE;
HAND DEFORMITIES, CONGENITAL;
HEARING LOSS, SENSORINEURAL;
HUMANS;
INTELLECTUAL DISABILITY;
INTERNATIONALITY;
MALE;
MUNC18 PROTEINS;
MUTATION;
NAILS, MALFORMED;
PHENOTYPE;
RECEPTORS, GABA-A;
SEQUENCE ANALYSIS, DNA;
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EID: 84922672761
PISSN: 03405354
EISSN: 14321459
Source Type: Journal
DOI: 10.1007/s00415-014-7372-1 Document Type: Article |
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Times cited : (8)
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References (0)
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