Associated Papers
Adenine phosphoribosyltransferase (APRT) deficiency: an increasingly recognized disease.
Leow EH et al.
International Urology and Nephrology, 2025
Clinical and molecular correlates of somatic and germline DDX41 variants in patients and families with myeloid neoplasms.
Badar T et al.
Haematologica, 2023
Functional Genomics of PRUNE1 in Neurodevelopmental Disorders (NDDs) Tied to Medulloblastoma (MB) and Other Tumors.
Bibbò F et al.
Frontiers in Oncology, 2021
Identifying Pathogenic Variants of Monogenic Diabetes Using Targeted Panel Sequencing in an East Asian Population.
Park SS et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Solution structure and functional investigation of human guanylate kinase reveals allosteric networking and a crucial role for the enzyme in cancer.
Khan N et al.
The Journal of Biological Chemistry, 2019
Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus-update and epidemiology.
Bichet DG et al.
Clinical Kidney Journal, 2012
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