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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1992 | 1 |
1998 | 1 |
2007 | 1 |
2008 | 1 |
2013 | 1 |
2014 | 1 |
2018 | 1 |
2024 | 0 |
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Page 1
Molecular genetic study of human arginase deficiency.
Am J Hum Genet. 1992 Jun;50(6):1281-90.
Am J Hum Genet. 1992.
PMID: 1598908
Free PMC article.
Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency.
Scholl-Bürgi S, Sigl SB, Häberle J, Haberlandt E, Rostásy K, Ertl C, Eichinger-Öttl U, Heinz-Erian P, Karall D.
Scholl-Bürgi S, et al.
J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S323-8. doi: 10.1007/s10545-008-0903-0. Epub 2008 Dec 6.
J Inherit Metab Dis. 2008.
PMID: 19052914
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Novel complex re-arrangement of ARG1 commonly shared by unrelated patients with hyperargininemia.
Mohseni J, Boon Hock C, Abdul Razak C, Othman SN, Hayati F, Peitee WO, Haniffa M, Zilfalil BA, Mohd Rawi R, Ngu LH, Sasongko TH.
Mohseni J, et al.
Gene. 2014 Jan 1;533(1):240-5. doi: 10.1016/j.gene.2013.09.081. Epub 2013 Oct 5.
Gene. 2014.
PMID: 24103480
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Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.
Buratti E, Chivers M, Královicová J, Romano M, Baralle M, Krainer AR, Vorechovsky I.
Buratti E, et al.
Nucleic Acids Res. 2007;35(13):4250-63. doi: 10.1093/nar/gkm402. Epub 2007 Jun 18.
Nucleic Acids Res. 2007.
PMID: 17576681
Free PMC article.
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Statistical features of human exons and their flanking regions.
Zhang MQ.
Zhang MQ.
Hum Mol Genet. 1998 May;7(5):919-32. doi: 10.1093/hmg/7.5.919.
Hum Mol Genet. 1998.
PMID: 9536098
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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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