Associated Papers
Assessment the carrier frequency of monogenic diseases in populations requiring assisted reproductive technology.
Xu X et al.
Bmc Medical Genomics, 2024
Novel variants identified in five Chinese families with Joubert Syndrome: a case report.
Fang L et al.
Bmc Medical Genomics, 2023
Novel compound heterozygous CPLANE1 variants identified in a Chinese family with Joubert syndrome.
Zhang C et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2021
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