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BMC Nephrology|February 3, 2025
Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocolAmali Mallawaarachchi, Hugh McCarthy, Thomas A Forbes, et al.
Nature Genetics|May 23, 2017
Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney diseaseHao Lu, Maria C Rondón Galeano, Elisabeth Ott, et al.
JACC. Cardiovascular Imaging|May 25, 2024
Diagnostic Value of Aortic Valve Calcification Levels in the Assessment of Low-Gradient Aortic StenosisRik Adrichem, Thijmen W Hokken, Sjoerd Bouwmeester, et al.
Science Advances|February 1, 2021
Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and miceAmar J Majmundar, Florian Buerger, Thomas A Forbes, et al.
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