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1998 1
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Page 1
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
Haghshenas S, Bout HJ, Schijns JM, Levy MA, Kerkhof J, Bhai P, McConkey H, Jenkins ZA, Williams EM, Halliday BJ, Huisman SA, Lauffer P, de Waard V, Witteveen L, Banka S, Brady AF, Galazzi E, van Gils J, Hurst ACE, Kaiser FJ, Lacombe D, Martinez-Monseny AF, Fergelot P, Monteiro FP, Parenti I, Persani L, Santos-Simarro F, Simpson BN; MKHK Research Consortium; Alders M, Robertson SP, Sadikovic B, Menke LA. Haghshenas S, et al. HGG Adv. 2024 Jul 18;5(3):100287. doi: 10.1016/j.xhgg.2024.100287. Epub 2024 Mar 29. HGG Adv. 2024. PMID: 38553851 Free PMC article.
Pregnancies in glycogen storage disease type Ia.
Martens DH, Rake JP, Schwarz M, Ullrich K, Weinstein DA, Merkel M, Sauer PJ, Smit GP. Martens DH, et al. Among authors: rake jp. Am J Obstet Gynecol. 2008 Jun;198(6):646.e1-7. doi: 10.1016/j.ajog.2007.11.050. Epub 2008 Feb 1. Am J Obstet Gynecol. 2008. PMID: 18241814 Free PMC article.
Intestinal function in glycogen storage disease type I.
Visser G, Rake JP, Kokke FT, Nikkels PG, Sauer PJ, Smit GP. Visser G, et al. Among authors: rake jp. J Inherit Metab Dis. 2002 Aug;25(4):261-7. doi: 10.1023/a:1016572706488. J Inherit Metab Dis. 2002. PMID: 12227456 Clinical Trial.
31 results