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Membrane topology and intracellular processing of cyclin M2 (CNNM2).
de Baaij JH, Stuiver M, Meij IC, Lainez S, Kopplin K, Venselaar H, Müller D, Bindels RJ, Hoenderop JG. de Baaij JH, et al. J Biol Chem. 2012 Apr 20;287(17):13644-55. doi: 10.1074/jbc.M112.342204. Epub 2012 Mar 7. J Biol Chem. 2012. PMID: 22399287 Free PMC article.
Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.
Ferrè S, de Baaij JH, Ferreira P, Germann R, de Klerk JB, Lavrijsen M, van Zeeland F, Venselaar H, Kluijtmans LA, Hoenderop JG, Bindels RJ. Ferrè S, et al. Among authors: de baaij jh, de klerk jb. J Am Soc Nephrol. 2014 Mar;25(3):574-86. doi: 10.1681/ASN.2013040337. Epub 2013 Nov 7. J Am Soc Nephrol. 2014. PMID: 24204001 Free PMC article.
CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia.
Arjona FJ, de Baaij JH, Schlingmann KP, Lameris AL, van Wijk E, Flik G, Regele S, Korenke GC, Neophytou B, Rust S, Reintjes N, Konrad M, Bindels RJ, Hoenderop JG. Arjona FJ, et al. Among authors: de baaij jh. PLoS Genet. 2014 Apr 3;10(4):e1004267. doi: 10.1371/journal.pgen.1004267. eCollection 2014 Apr. PLoS Genet. 2014. PMID: 24699222 Free PMC article.
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