Associated Papers
Adenine phosphoribosyltransferase (APRT) deficiency: an increasingly recognized disease.
Leow EH et al.
International Urology and Nephrology, 2025
Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study.
Zou W et al.
Journal of Assisted Reproduction and Genetics, 2024
A two-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family: clinical presentations, pathological characteristics and genetic analysis: a case report.
Yang D et al.
Diagnostic Pathology, 2022
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