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Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|December 25, 2004
Thin glomerular basement membrane disease: clinical significance of a morphological diagnosis--a collaborative study of the Italian Renal Immunopathology GroupGiovanni M Frascà, Andrea Onetti-Muda, Francesca Mari, et al.Proceedings of the National Academy of Sciences of the United States of America|February 13, 2008
Mutations in FN1 cause glomerulopathy with fibronectin depositsFederica Castelletti, Roberta Donadelli, Federica Banterla, et al.European Journal of Medical Genetics|March 12, 2010
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone ageVera Uliana, Salvatore Grosso, Maddalena Cioni, et al.Genes|September 28, 2023
Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and MiceConstantinos Deltas, Gregory Papagregoriou, Stavroula F Louka, et al.Clinical Genetics|November 19, 2011
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamicsR De Filippis, L Pancrazi, K Bjørgo, et al.Acta Ophthalmologica|January 25, 2012
Superselective ophthalmic artery infusion of melphalan for intraocular retinoblastoma: preliminary results from 140 treatmentsCarlo Venturi, Sandra Bracco, Alfonso Cerase, et al.Free Radical Biology & Medicine|May 27, 2015
Alteration of serum lipid profile, SRB1 loss, and impaired Nrf2 activation in CDKL5 disorderAlessandra Pecorelli, Giuseppe Belmonte, Ilaria Meloni, et al.Clinical Genetics|February 5, 2005
Germline mosaicism in Rett syndrome identified by prenatal diagnosisF Mari, R Caselli, S Russo, et al.Human Mutation|June 30, 2009
Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controlsPeriklis Makrythanasis, Philipp Kapranov, Lucia Bartoloni, et al.Human Mutation|December 23, 2006
Italian Rett database and biobankKatia Sampieri, Ilaria Meloni, Elisa Scala, et al.Pageof 63