Associated Papers
Whole-exome sequencing in fetuses with central nervous system abnormalities.
Reches A et al.
Journal of Perinatology : Official Journal of the California Perinatal Association, 2018
Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders.
Koyama S et al.
Bmc Medical Genetics, 2017
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