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Sponsored AI AM CLAUDE, A Beginner's Guide: Learn the basics of working with AI AI AM CLAUDE, A Beginner's Guide: Learn the basics of working with AI

Author

Jun-Yu Zhang

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2 papers indexed here

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Oct 2026

A Novel Homozygous ZPBP Frameshift Variant Is Associated With Severe Acrosomal Structural Abnormalities in Asthenoteratozoospermia.

BACKGROUND Experimental disruption of Zpbp homologs in mice causes defective acrosomal biogenesis and male infertility. Human evidence remains limited to a small number of association-based or case-level reports linking ZPBP alterations to abnormal sperm-head or acrosomal phenotypes, without integrated characterization...

Jie Yang, Qi Chen, Huan Ren et al. · 0 citations
Open access Oct 2026

Preimplantation genetic testing for KIT-associated pigmentary monogenic diseases

This study addresses the genetic diagnosis and reproductive intervention for families affected by KIT-related pigmentary disorders, which can manifest as either piebaldism due to loss-of-function variants or hyperpigmentation due to gain-of-function variants. We recruited three Chinese families presenting with these di...

Zhou Zhou, Shan-Shan Liang, Ning-Xin Qin et al. · 0 citations

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