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Clinical Journal of the American Society of Nephrology : CJASN|January 8, 2013
1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of NephrolithiasisGalina Nesterova, May Christine Malicdan, Kaori Yasuda, et al.
Journal of Pathology Informatics|December 1, 2025
The comparative pathology workbench: An updateMichael N Wicks, Michael Glinka, Bill Hill, et al.
American Journal of Medical Genetics. Part A|March 10, 2020
A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung diseaseElizabeth A Burke, Kyle E Reichard, Lynne A Wolfe, et al.
Disease Models & Mechanisms|March 23, 2013
Bloomsbury report on mouse embryo phenotyping: recommendations from the IMPC workshop on embryonic lethal screeningDavid Adams, Richard Baldock, Shoumo Bhattacharya, et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|January 12, 2019
Cause of death analysis and temporal trends in survival after liver transplantation for transthyretin familial amyloid polyneuropathyVincent Algalarrondo, Teresa Antonini, Marie Théaudin, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 21, 2024
Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viabilityDebdeep Dutta, Oguz Kanca, Rishi V Shridharan, et al.
Science (New York, N.Y.)|June 26, 2025
Cascading land surface hazards as a nexus in the Earth systemBrian J Yanites, Marin K Clark, Joshua J Roering, et al.
Molecular Genetics and Metabolism|January 27, 2012
Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution functionThomas C Markello, Hannah Carlson-Donohoe, Murat Sincan, et al.
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