Last Updated: 09/26/2026
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Found 7 publications
Calciphylaxis in POEMS syndrome: Case report.
Journal: Rare (Amsterdam, Netherlands)
Published: March 04, 2024
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.
Journal: EMBO molecular medicine
Published: August 19, 2022
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.
Journal: The New England journal of medicine
Published: October 27, 2020
SGLT2 Inhibitors for Treatment of Refractory Hypomagnesemia: A Case Report of 3 Patients.
Journal: Kidney medicine
Published: August 01, 2020
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 06, 2018
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
Journal: American journal of human genetics
Published: December 13, 2017
Showing 1-7 of 7
Last Updated: 09/26/2026