Biblio
[Paramyotonia congenita caused by a novel mutation of SCN4A gene in a Chinese family]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016;33(2):131-134.
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[Analysis and prenatal diagnosis of FMR1 gene mutations among patients with unexplained mental retardation]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021;38(5):439-445.
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Deleterious variants in X-linked RHOXF1 cause male infertility with oligo- and azoospermia. Mol Hum Reprod. 2024.
Extended application of PGT-M strategies for small pathogenic CNVs. J Assist Reprod Genet. 2024.
Identification of novel homozygous asthenoteratospermia-causing ARMC2 mutations associated with multiple morphological abnormalities of the sperm flagella. J Assist Reprod Genet. 2024.
Novel SPEF2 variants cause male infertility and likely primary ciliary dyskinesia. J Assist Reprod Genet. 2024.