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Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome.
van der Werf IM, Buiting K, Czeschik C, Reyniers E, Vandeweyer G, Vanhaesebrouck P, Lüdecke HJ, Wieczorek D, Horsthemke B, Mortier G, Leroy JG, Kooy RF. van der Werf IM, et al. Among authors: vanhaesebrouck p. Eur J Hum Genet. 2016 Dec;24(12):1724-1729. doi: 10.1038/ejhg.2016.82. Epub 2016 Jul 13. Eur J Hum Genet. 2016. PMID: 27406249 Free PMC article.
Evidence for autosomal dominant inheritance in prenatally diagnosed CHAOS.
Vanhaesebrouck P, De Coen K, Defoort P, Vermeersch H, Mortier G, Goossens L, Smets K, Zecic A, Vandaele S, De Baets F. Vanhaesebrouck P, et al. Eur J Pediatr. 2006 Oct;165(10):706-8. doi: 10.1007/s00431-006-0134-z. Epub 2006 Apr 27. Eur J Pediatr. 2006. PMID: 16642370
MRI findings in a neonate with cerebellar agenesis.
Van Coster RN, De Praeter CM, Vanhaesebrouck PJ, Leroy JG. Van Coster RN, et al. Among authors: vanhaesebrouck pj. Pediatr Neurol. 1998 Aug;19(2):139-42. doi: 10.1016/s0887-8994(98)00023-x. Pediatr Neurol. 1998. PMID: 9744635
70 results