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Generation of an iPSC line (AKOSi004-A) from fibroblasts of a female adult NPC1 patient, carrying the compound heterozygous mutation p.Val1023Serfs*15/p.Gly992Arg and of an iPSC line (AKOSi005-A) from a female adult control individual.
Völkner C, Liedtke M, Petters J, Lukas J, Murua Escobar H, Knuebel G, Bullerdiek J, Holzmann C, Hermann A, Frech MJ; US Food and Drug Administration Interviewees; Robyn Bent R, Bocell F, Garrard L, Johnson LL, Knoble N, Reasner D, Tarver M, Weinfurt K, Mullin T. Völkner C, et al. Among authors: knoble n. Stem Cell Res. 2020 Dec 15;50:102127. doi: 10.1016/j.scr.2020.102127. Online ahead of print. Stem Cell Res. 2020. PMID: 33360098 Free article.
Systematic Review: Associations Between Family Functioning and Child Adjustment After Pediatric Cancer Diagnosis: A Meta-Analysis.
Van Schoors M, Caes L, Knoble NB, Goubert L, Verhofstadt LL, Alderfer MA; Guest Editors: Cynthia A. Gerhardt, Cynthia A. Berg, Deborah J. Wiebe and Grayson N. Holmbeck. Van Schoors M, et al. Among authors: knoble nb. J Pediatr Psychol. 2017 Jan 1;42(1):6-18. doi: 10.1093/jpepsy/jsw070. J Pediatr Psychol. 2017. PMID: 28173163 Review.
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