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Year | Number of Results |
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1991 | 1 |
2009 | 1 |
2016 | 1 |
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Improved molecular diagnostics for ornithine transcarbamylase deficiency.
Am J Hum Genet. 1991 Feb;48(2):212-22.
Am J Hum Genet. 1991.
PMID: 1671317
Free PMC article.
High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.
Shchelochkov OA, Li FY, Geraghty MT, Gallagher RC, Van Hove JL, Lichter-Konecki U, Fernhoff PM, Copeland S, Reimschisel T, Cederbaum S, Lee B, Chinault AC, Wong LJ.
Shchelochkov OA, et al.
Mol Genet Metab. 2009 Mar;96(3):97-105. doi: 10.1016/j.ymgme.2008.11.167. Epub 2009 Jan 12.
Mol Genet Metab. 2009.
PMID: 19138872
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Ornithine transcarbamylase deficiency of a male newborn with fatal outcome.
Hartung B, Temme O, Neuen-Jacob E, Ritz-Timme S, Hinderhofer K, Daldrup T.
Hartung B, et al.
Int J Legal Med. 2016 May;130(3):783-5. doi: 10.1007/s00414-015-1311-2. Epub 2016 Jan 11.
Int J Legal Med. 2016.
PMID: 26753873
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Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.
Bijarnia-Mahay S, Häberle J, Jalan AB, Puri RD, Kohli S, Kudalkar K, Rüfenacht V, Gupta D, Maurya D, Verma J, Shigematsu Y, Yamaguchi S, Saxena R, Verma IC.
Bijarnia-Mahay S, et al.
Orphanet J Rare Dis. 2018 Oct 1;13(1):174. doi: 10.1186/s13023-018-0908-1.
Orphanet J Rare Dis. 2018.
PMID: 30285816
Free PMC article.
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