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[Donor/recipient age index (DoRAIn) as an independent predictor of long-term living-donor renal graft function].
Gac Med Mex. 2016 Sep-Oct;152(5):582-586.
Gac Med Mex. 2016.
PMID: 27792690
Free article.
Spanish.
Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.
Alfares A, Nunez LD, Al-Thihli K, Mitchell J, Melançon S, Anastasio N, Ha KC, Majewski J, Rosenblatt DS, Braverman N.
Alfares A, et al. Among authors: nunez ld.
J Med Genet. 2011 Sep;48(9):602-5. doi: 10.1136/jmedgenet-2011-100230. Epub 2011 Jul 23.
J Med Genet. 2011.
PMID: 21785126
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Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband.
Watkins D, Schwartzentruber JA, Ganesh J, Orange JS, Kaplan BS, Nunez LD, Majewski J, Rosenblatt DS.
Watkins D, et al. Among authors: nunez ld.
J Med Genet. 2011 Sep;48(9):590-2. doi: 10.1136/jmedgenet-2011-100286. Epub 2011 Aug 3.
J Med Genet. 2011.
PMID: 21813566
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Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings.
Prasad C, Melançon SB, Rupar CA, Prasad AN, Nunez LD, Rosenblatt DS, Majewski J.
Prasad C, et al. Among authors: nunez ld.
Mol Genet Metab. 2013 Mar;108(3):190-4. doi: 10.1016/j.ymgme.2012.12.007. Epub 2012 Dec 31.
Mol Genet Metab. 2013.
PMID: 23375728
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