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Proceedings of the National Academy of Sciences of the United States of America|May 30, 1998
Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosisF E Karet, F J Gainza, A Z Györy, et al.
The Journal of Pharmacology and Experimental Therapeutics|November 14, 1997
Biological profile of L-745,870, a selective antagonist with high affinity for the dopamine D4 receptorS Patel, S Freedman, K L Chapman, et al.
Annals of the Rheumatic Diseases|July 20, 2014
Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever RegistryR Levy, L Gérard, J Kuemmerle-Deschner, et al.
Annals of the Rheumatic Diseases|June 5, 2012
Guidelines for the genetic diagnosis of hereditary recurrent feversY Shinar, L Obici, I Aksentijevich, et al.
Clinical Immunology (Orlando, Fla.)|March 19, 2023
PReS-endorsed international childhood lupus T2T task force definition of childhood lupus low disease activity state (cLLDAS)E M D Smith, A Aggarwal, J Ainsworth, et al.
Nature Genetics|January 23, 1999
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafnessF E Karet, K E Finberg, R D Nelson, et al.
Journal of Medical Genetics|November 5, 2002
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing lossE H Stover, K J Borthwick, C Bavalia, et al.
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