Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes

European Journal of Human Genetics

Volumn 23, Issue 3, 2015, Pages 347-353

  Justino, Ana ^a   Dias, Patrícia ^b   João Pina, Maria ^a   Sousa, Sónia ^a   Cirnes, Luís ^a   Berta Sousa, Ana ^b   Carlos Machado, José ^a,c   Costa, José Luis ^a,c  

^a UNIVERSITY OF PORTO   (Portugal)

^b HOSPITAL DE SANTA MARIA   (Portugal)

^c University of Porto   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; CBL PROTEIN; GENOMIC DNA; K RAS PROTEIN; PROTEIN TYROSINE PHOSPHATASE SHP 2; SOS PROTEIN; SHOC2 PROTEIN, HUMAN; SIGNAL PEPTIDE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC VALUE; DNA SEQUENCE; FALSE NEGATIVE RESULT; GENE AMPLIFICATION; GENE FREQUENCY; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; MASSIVE PARALLEL SEQUENCING; MOLECULAR DIAGNOSIS; MULTIPLE MALFORMATION SYNDROME; MULTIPLEX POLYMERASE CHAIN REACTION; NEURO CARDIO FACIO CUTANEOUS SYNDROME; NUCLEIC ACID BASE SUBSTITUTION; ONCOGENE H RAS; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; ABNORMALITIES, MULTIPLE; CHEMISTRY; ECTODERMAL DYSPLASIA; EXOME; FACIES; FAILURE TO THRIVE; GENETIC ASSOCIATION; GENETICS; HEART DEFECTS, CONGENITAL; HIGH THROUGHPUT SEQUENCING; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PHENOTYPE; REPRODUCIBILITY; SEQUENCE ALIGNMENT;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; ECTODERMAL DYSPLASIA; EXOME; FACIES; FAILURE TO THRIVE; GENETIC ASSOCIATION STUDIES; GENETIC TESTING; HEART DEFECTS, CONGENITAL; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MOLECULAR SEQUENCE DATA; PHENOTYPE; REPRODUCIBILITY OF RESULTS; SEQUENCE ALIGNMENT;

EID: 84938422130     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.97     Document Type: Article

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