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A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome
Henry Rivera, Elena Martín-Hernández, Aitor Delmiro, María García-Silva, Pilar Quijada-Fraile, Rafael Muley, Joaquín Arenas, Miguel A Martín, Francisco Martínez-Azorín BMC Nephrology 2013, 14:195 (13 September 2013)
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Molecular analysis of a consanguineous Iranian polycystic kidney disease family identifies a PKD2 mutation that aids diagnostics
Reza Vazifehmand, Sandro Rossetti, Sassan Saber, Hamid Reza Khorshid, Peter C Harris BMC Nephrology 2013, 14:190 (8 September 2013)
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A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3
Shoji Tsuji, Miyoko Yamashita, Gen Unishi, Reiko Takewa, Takahisa Kimata, Kiyoshi Isobe, Motoko Chiga, Shinichi Uchida, Kazunari Kaneko BMC Nephrology 2013, 14:166 (31 July 2013)
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Splanchnic vein thrombosis following renal transplantation: a case report
Erhan Tatar, Adam Uslu, Ahmet Aykas, Funda Tasli, Ozgur Oztekin, Gulsum Cagliyan BMC Nephrology 2013, 14:161 (22 July 2013)
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Haplotype association analysis of genes within the WNT signalling pathways in diabetic nephropathy
David H Kavanagh, David A Savage, Christopher C Patterson, Amy McKnight, John K Crean, Alexander P Maxwell, Gareth J McKay, the Warren 3/UK GoKinD Study Group BMC Nephrology 2013, 14:126 (18 June 2013)
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BMC Nephrology reviewer acknowledgement 2012
Hayley Henderson BMC Nephrology 2013, 14:61 (2 April 2013)
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Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation
Maddalena Gigante, Marilena d’Altilia, Eustacchio Montemurno, Sterpeta Diella, Francesca Bruno, Giuseppe S Netti, Elena Ranieri, Giovanni Stallone, Barbara Infante, Giuseppe Grandaliano, Loreto Gesualdo BMC Nephrology 2013, 14:60 (18 March 2013)
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