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De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
PLoS Genet. 2018 Nov 30;14(11):e1007671. doi: 10.1371/journal.pgen.1007671. eCollection 2018 Nov.
PLoS Genet. 2018.
PMID: 30500825
Free PMC article.
Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally?
Vlangos CN, Yim DK, Elsea SH.
Vlangos CN, et al.
Mol Genet Metab. 2003 Jun;79(2):134-41. doi: 10.1016/s1096-7192(03)00048-9.
Mol Genet Metab. 2003.
PMID: 12809645
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Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer.
Kaurah P, MacMillan A, Boyd N, Senz J, De Luca A, Chun N, Suriano G, Zaor S, Van Manen L, Gilpin C, Nikkel S, Connolly-Wilson M, Weissman S, Rubinstein WS, Sebold C, Greenstein R, Stroop J, Yim D, Panzini B, McKinnon W, Greenblatt M, Wirtzfeld D, Fontaine D, Coit D, Yoon S, Chung D, Lauwers G, Pizzuti A, Vaccaro C, Redal MA, Oliveira C, Tischkowitz M, Olschwang S, Gallinger S, Lynch H, Green J, Ford J, Pharoah P, Fernandez B, Huntsman D.
Kaurah P, et al.
JAMA. 2007 Jun 6;297(21):2360-72. doi: 10.1001/jama.297.21.2360. Epub 2007 Jun 3.
JAMA. 2007.
PMID: 17545690
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Non-concordance of CVS and liver glycine cleavage enzyme in three families with non-ketotic hyperglycinaemia (NKH) leading to false negative prenatal diagnoses.
Applegarth DA, Toone JR, Rolland MO, Black SH, Yim DK, Bemis G.
Applegarth DA, et al.
Prenat Diagn. 2000 May;20(5):367-70. doi: 10.1002/(sici)1097-0223(200005)20:5<367::aid-pd814>3.0.co;2-e.
Prenat Diagn. 2000.
PMID: 10820402
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