Biblio
Biallelic variants in IQCN cause sperm flagellar assembly defects and male infertility. Hum Reprod. 2023.
. A case report of a normal fertile woman with 46,XX/46,XY somatic chimerism reveals a critical role for germ cells in sex determination. Hum Reprod. 2024.
. Clinical and neonatal outcomes of patients of different ages following transfer of thawed cleavage embryos and blastocysts cultured from thawed cleavage-stage embryos. PLoS One. 2018;13(11):e0207340.
. Defects in phospholipase C zeta cause polyspermy and low fertilization after conventional IVF: not just ICSI failure. Asian J Androl. 2023.
. The first patient with a pure 1p36 microtriplication associated with severe clinical phenotypes. Mol Cytogenet. 2014;7(1):64.
. A hemizygous loss-of-function variant in BCORL1 is associated with male infertility and oligoasthenoteratozoospermia. Clin Genet. 2024.
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