Associated Papers
Simultaneous CNV-seq and WES: An effective strategy for molecular diagnosis of unexplained fetal structural anomalies.
Zhang H et al.
Heliyon, 2024
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.
Lahrouchi N et al.
The Journal of Clinical Investigation, 2021
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