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Combinations of exonic deletions and rare mutations lead to misdiagnosis of propionic acidemia. Clin Chim Acta. 2019..
Blood CD4CD25 T regulatory cells constitute a potential predictive marker of subsequent miscarriage in unexplained recurrent pregnancy loss. Int Immunopharmacol. 2022;110:108960.
Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice. Am J Hum Genet. 2021.
Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice. Am J Hum Genet. 2021.
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