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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2010 | 1 |
2011 | 1 |
2012 | 1 |
2014 | 2 |
2024 | 0 |
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Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype.
JIMD Rep. 2012;4:103-8. doi: 10.1007/8904_2011_79. Epub 2011 Nov 2.
JIMD Rep. 2012.
PMID: 23430903
Free PMC article.
Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation.
Lübbehusen J, Thiel C, Rind N, Ungar D, Prinsen BH, de Koning TJ, van Hasselt PM, Körner C.
Lübbehusen J, et al.
Hum Mol Genet. 2010 Sep 15;19(18):3623-33. doi: 10.1093/hmg/ddq278. Epub 2010 Jul 6.
Hum Mol Genet. 2010.
PMID: 20605848
Item in Clipboard
Variable phenotypic expression of COG6 mutations.
Alkuraya FS, Shaheen R.
Alkuraya FS, et al.
J Med Genet. 2014 Jun;51(6):425-6. doi: 10.1136/jmedgenet-2014-102388. Epub 2014 Mar 25.
J Med Genet. 2014.
PMID: 24667118
No abstract available.
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Expanding the clinical phenotype of COG6 deficiency.
Haijes H, Prinsen HC, Thiel C, Koerner C, Verhoeven-Duif NM, van Hasselt PM.
Haijes H, et al.
J Med Genet. 2014 Jun;51(6):425. doi: 10.1136/jmedgenet-2014-102329. Epub 2014 Mar 25.
J Med Genet. 2014.
PMID: 24667119
No abstract available.
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