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Clinical Genetics|August 31, 1999
Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutationsM R Eccles, L A SchimmentiAmerican Journal of Medical Genetics|June 1, 1994
Infant with multiple congenital anomalies and deletion (9)(q34.3)L A Schimmenti, S A Berry, M Tuchman, et al.Experimental Hematology|December 1, 1995
Localization of an essential ligand binding determinant of the human erythropoietin receptor to a domain N-terminal to the WSXWS motif: implications for soluble receptor functionL A Schimmenti, G Blechert, K W Harris, et al.Molecular Genetics and Metabolism|December 23, 1999
Identification of two single nucleotide polymorphisms in exon 8 of PAX2H H Shim, B N Nakamura, R M Cantor, et al.Journal of Cellular Physiology|November 1, 1992
Platelet endothelial cell adhesion molecule, PECAM-1, modulates cell migrationL A Schimmenti, H C Yan, J A Madri, et al.American Journal of Ophthalmology|December 4, 2001
Renal-coloboma syndrome: report of a novel PAX2 gene mutationG W Chung, A O Edwards, L A Schimmenti, et al.Clinical Genetics|January 26, 2010
Cardiac conduction improvement in two heterozygotes for primary carnitine deficiency on L-carnitine supplementationK Sarafoglou, A H C Tridgell, K Bentler, et al.Human Mutation|January 1, 1994
A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathyG Silvestri, F M Santorelli, S Shanske, et al.American Journal of Medical Genetics|November 6, 1995
Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomaliesL A Schimmenti, M E Pierpont, B L Carpenter, et al.American Journal of Medical Genetics|May 22, 1995
Monosomy 9p24-->pter and trisomy 5q31-->qter: case report and review of two casesL A Schimmenti, R R Higgins, N J Mendelsohn, et al.Pageof 2