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Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy. The Journal of molecular diagnostics : JMD. 2016. doi:10.1016/j.jmoldx.2015.10.005.
CIBERER: Spanish National Network for Research on Rare Diseases: a highly productive collaborative initiative. Clin Genet. 2022. doi:10.1111/cge.14113.
Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease. Scientific reports. 2015;5:16473. doi:10.1038/srep16473.
Identification of epistatic interactions through genome-wide association studies in sporadic medullary and juvenile papillary thyroid carcinomas. BMC Medical Genomics. 2015;8:83. doi:10.1186/s12920-015-0160-7.
Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease. Scientific Reports. 2015;5(1). doi:10.1038/srep16473.
Identification of epistatic interactions through genome-wide association studies in sporadic medullary and juvenile papillary thyroid carcinomas. BMC medical genomics. 2015;8:83. doi:10.1186/s12920-015-0160-7.