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Year | Number of Results |
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2010 | 1 |
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PubMed (cited) for id: 613666
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ALG11-CDG syndrome: Expanding the phenotype.
Am J Med Genet A. 2019 Mar;179(3):498-502. doi: 10.1002/ajmg.a.61046. Epub 2019 Jan 24.
Am J Med Genet A. 2019.
PMID: 30676690
Free PMC article.
Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip.
Thiel C, Rind N, Popovici D, Hoffmann GF, Hanson K, Conway RL, Adamski CR, Butler E, Scanlon R, Lambert M, Apeshiotis N, Thiels C, Matthijs G, Körner C.
Thiel C, et al.
Hum Mutat. 2012 Mar;33(3):485-7. doi: 10.1002/humu.22019. Epub 2012 Jan 31.
Hum Mutat. 2012.
PMID: 22213132
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A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip.
Rind N, Schmeiser V, Thiel C, Absmanner B, Lübbehusen J, Hocks J, Apeshiotis N, Wilichowski E, Lehle L, Körner C.
Rind N, et al.
Hum Mol Genet. 2010 Apr 15;19(8):1413-24. doi: 10.1093/hmg/ddq016. Epub 2010 Jan 15.
Hum Mol Genet. 2010.
PMID: 20080937
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Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain.
Nagase T, Seki N, Ishikawa K, Ohira M, Kawarabayasi Y, Ohara O, Tanaka A, Kotani H, Miyajima N, Nomura N.
Nagase T, et al.
DNA Res. 1996 Oct 31;3(5):321-9, 341-54. doi: 10.1093/dnares/3.5.321.
DNA Res. 1996.
PMID: 9039502
Free article.
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