Items where authors include "Isidor, B"
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Article
Schirwani, S, Albaba, S, Carere, DA et al. (52 more authors) (2021) Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3. American Journal of Medical Genetics Part A, 185 (11). pp. 3446-3458. ISSN 1552-4825
Jaureguiberry, G, De la Dure-Molla, M, Parry, D et al. (68 more authors) (2013) Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations. Nephron Physiology, 122 (1-2). pp. 1-6. ISSN 1660-8151