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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2003 | 3 |
2004 | 1 |
2005 | 1 |
2006 | 1 |
2007 | 1 |
2024 | 0 |
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Improved diagnostic testing for ataxia-telangiectasia by immunoblotting of nuclear lysates for ATM protein expression.
Mol Genet Metab. 2003 Dec;80(4):437-43. doi: 10.1016/j.ymgme.2003.09.008.
Mol Genet Metab. 2003.
PMID: 14654357
Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate.
Mitui M, Campbell C, Coutinho G, Sun X, Lai CH, Thorstenson Y, Castellvi-Bel S, Fernandez L, Monros E, Carvalho BT, Porras O, Fontan G, Gatti RA.
Mitui M, et al.
Hum Mutat. 2003 Jul;22(1):43-50. doi: 10.1002/humu.10232.
Hum Mutat. 2003.
PMID: 12815592
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Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations.
Coutinho G, Mitui M, Campbell C, Costa Carvalho BT, Nahas S, Sun X, Huo Y, Lai CH, Thorstenson Y, Tanouye R, Raskin S, Kim CA, Llerena J Jr, Gatti RA.
Coutinho G, et al.
Am J Med Genet A. 2004 Apr 1;126A(1):33-40. doi: 10.1002/ajmg.a.20570.
Am J Med Genet A. 2004.
PMID: 15039971
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14-3-3 protein interacts with Huntingtin-associated protein 1 and regulates its trafficking.
Rong J, Li S, Sheng G, Wu M, Coblitz B, Li M, Fu H, Li XJ.
Rong J, et al.
J Biol Chem. 2007 Feb 16;282(7):4748-4756. doi: 10.1074/jbc.M609057200. Epub 2006 Dec 13.
J Biol Chem. 2007.
PMID: 17166838
Free article.
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Identification of the first non-Jewish mutation in familial Dysautonomia.
Leyne M, Mull J, Gill SP, Cuajungco MP, Oddoux C, Blumenfeld A, Maayan C, Gusella JF, Axelrod FB, Slaugenhaupt SA.
Leyne M, et al.
Am J Med Genet A. 2003 May 1;118A(4):305-8. doi: 10.1002/ajmg.a.20052.
Am J Med Genet A. 2003.
PMID: 12687659
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Post-irradiation phosphorylation of structural maintenance chromosome 1 (SMC1) is independent of the Fanconi protein pathway.
Nahas SA, Lai CH, Gatti RA.
Nahas SA, et al.
Int J Radiat Oncol Biol Phys. 2005 Mar 15;61(4):1167-72. doi: 10.1016/j.ijrobp.2004.11.023.
Int J Radiat Oncol Biol Phys. 2005.
PMID: 15752898
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