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The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).
Franken GAC, Müller D, Mignot C, Keren B, Lévy J, Tabet AC, Germanaud D, Tejada MI, Kroes HY, Nievelstein RAJ, Brimble E, Ruzhnikov M, Claverie-Martin F, Szczepańska M, Ćuk M, Latta F, Konrad M, Martínez-Cruz LA, Bindels RJM, Hoenderop JGJ, Schlingmann KP, de Baaij JHF. Franken GAC, et al. Among authors: muller d. Hum Mutat. 2021 Apr;42(4):473-486. doi: 10.1002/humu.24182. Epub 2021 Mar 1. Hum Mutat. 2021. PMID: 33600043 Free PMC article.
Comment to "Recommendation on an updated standardization of serum magnesium reference ranges".
de Baaij JHF, Bockenhauer D, Claverie-Martin F, Hoenderop JGJ, Hoorn EJ, Houillier P, Knoers NVAM, Konrad M, Müller D, Nijenhuis T, Schlingmann KP, Vargas Poussou R. de Baaij JHF, et al. Among authors: muller d. Eur J Nutr. 2022 Dec;61(8):4231-4233. doi: 10.1007/s00394-022-03004-9. Epub 2022 Sep 27. Eur J Nutr. 2022. PMID: 36168067 No abstract available.
Structural Basis of the Oncogenic Interaction of Phosphatase PRL-1 with the Magnesium Transporter CNNM2.
Giménez-Mascarell P, Oyenarte I, Hardy S, Breiderhoff T, Stuiver M, Kostantin E, Diercks T, Pey AL, Ereño-Orbea J, Martínez-Chantar ML, Khalaf-Nazzal R, Claverie-Martin F, Müller D, Tremblay ML, Martínez-Cruz LA. Giménez-Mascarell P, et al. Among authors: muller d. J Biol Chem. 2017 Jan 20;292(3):786-801. doi: 10.1074/jbc.M116.759944. Epub 2016 Nov 29. J Biol Chem. 2017. PMID: 27899452 Free PMC article.
5,108 results