TY  - GEN
AU  - Justino,Ana
AU  - Dias,Patrícia
AU  - João Pina,Maria
AU  - Sousa,Sónia
AU  - Cirnes,Luís
AU  - Berta Sousa,Ana
AU  - Carlos Machado,José
AU  - Costa,José Luis
TI  - Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes
SN  - 1476-5438
PY  - 2015///1022
KW  - Abnormalities, Multiple
KW  - diagnosis
KW  - Base Sequence
KW  - Ectodermal Dysplasia
KW  - Exome
KW  - Facies
KW  - Failure to Thrive
KW  - Genetic Association Studies
KW  - Genetic Testing
KW  - Heart Defects, Congenital
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Intracellular Signaling Peptides and Proteins
KW  - chemistry
KW  - Molecular Sequence Data
KW  - Phenotype
KW  - Reproducibility of Results
KW  - Sequence Alignment
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/ejhg.2014.97
ER  -